Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151557152_151557154delinsCAG , CM000669.2:g.151557152_151557154delinsCAG	GRCh38
NC_000007.13:g.151254238_151254240delinsCAG , CM000669.1:g.151254238_151254240delinsCAG	GRCh37
NC_000007.12:g.150885171_150885173delinsCAG	NCBI36
NG_007486.1:g.325077_325079delinsCTG
NG_007486.2:g.325078_325080delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.493_495delinsCTG	ENSP00000420645.3:n.493_495delinsCTG
ENST00000652321.2:c.47_49delinsCTG	ENSP00000498886.2:n.47_49delinsCTG
ENST00000287878.9:c.47_49delinsCTG MANE Select	ENSP00000287878.3:n.47_49delinsCTG
ENST00000476632.2:c.47_49delinsCTG	ENSP00000419493.2:n.47_49delinsCTG
ENST00000492843.6:c.47_49delinsCTG	ENSP00000419577.2:n.47_49delinsCTG
ENST00000650664.1:n.1472_1474delinsCTG
ENST00000650851.1:n.1251_1253delinsCTG
ENST00000650858.1:c.47_49delinsCTG	ENSP00000498384.1:n.47_49delinsCTG
ENST00000650948.1:n.4143_4145delinsCTG
ENST00000651188.1:c.870_872delinsCTG	ENSP00000498557.1:n.870_872delinsCTG
ENST00000651303.1:c.1076_1078delinsCTG	ENSP00000498428.1:n.1076_1078delinsCTG
ENST00000651378.1:c.47_49delinsCTG	ENSP00000499103.1:n.47_49delinsCTG
ENST00000651764.1:c.47_49delinsCTG	ENSP00000498796.1:n.47_49delinsCTG
ENST00000651836.1:c.1947_1949delinsCTG	ENSP00000499156.1:n.1947_1949delinsCTG
ENST00000651954.1:n.1973_1975delinsCTG
ENST00000652047.1:c.47_49delinsCTG	ENSP00000499111.1:n.47_49delinsCTG
ENST00000652136.1:n.2304_2306delinsCTG
ENST00000652159.1:c.47_49delinsCTG	ENSP00000499025.1:n.47_49delinsCTG
ENST00000652397.1:c.493_495delinsCTG	ENSP00000498351.1:n.493_495delinsCTG
ENST00000287878.8:c.47_49delinsCTG	ENSP00000287878.3:n.47_49delinsCTG
ENST00000392801.6:c.47_49delinsCTG	ENSP00000376549.2:n.47_49delinsCTG
ENST00000418337.6:c.47_49delinsCTG	ENSP00000387386.2:n.47_49delinsCTG
ENST00000479461.1:n.409_411delinsCTG
ENST00000492843.5:c.47_49delinsCTG	ENSP00000419577.1:n.47_49delinsCTG
NM_001040633.1:c.47_49delinsCTG	NP_001035723.1:n.47_49delinsCTG
NM_001304527.1:c.47_49delinsCTG	NP_001291456.1:n.47_49delinsCTG
NM_001304531.1:c.47_49delinsCTG	NP_001291460.1:n.47_49delinsCTG
NM_016203.3:c.47_49delinsCTG	NP_057287.2:n.47_49delinsCTG
NM_024429.1:c.47_49delinsCTG	NP_077747.1:n.47_49delinsCTG
XM_005250002.2:c.3188_3190delinsCTG	XP_005250059.1:n.3188_3190delinsCTG
XM_005250004.2:c.3188_3190delinsCTG	XP_005250061.1:n.3188_3190delinsCTG
XM_005250006.3:c.3188_3190delinsCTG	XP_005250063.1:n.3188_3190delinsCTG
XM_006716021.2:c.3188_3190delinsCTG	XP_006716084.1:n.3188_3190delinsCTG
XM_011516282.1:c.3188_3190delinsCTG	XP_011514584.1:n.3188_3190delinsCTG
XM_011516283.1:c.47_49delinsCTG	XP_011514585.1:n.47_49delinsCTG
XM_011516284.1:c.47_49delinsCTG	XP_011514586.1:n.47_49delinsCTG
XM_011516285.1:c.3188_3190delinsCTG	XP_011514587.1:n.3188_3190delinsCTG
XM_011516286.1:c.3188_3190delinsCTG	XP_011514588.1:n.3188_3190delinsCTG
XM_011516287.1:c.3188_3190delinsCTG	XP_011514589.1:n.3188_3190delinsCTG
NM_001363698.1:c.47_49delinsCTG	NP_001350627.1:n.47_49delinsCTG
XM_005250002.4:c.3188_3190delinsCTG	XP_005250059.1:n.3188_3190delinsCTG
XM_005250004.4:c.3188_3190delinsCTG	XP_005250061.1:n.3188_3190delinsCTG
XM_005250006.5:c.3188_3190delinsCTG	XP_005250063.1:n.3188_3190delinsCTG
XM_011516285.2:c.3188_3190delinsCTG	XP_011514587.1:n.3188_3190delinsCTG
XM_011516286.2:c.3188_3190delinsCTG	XP_011514588.1:n.3188_3190delinsCTG
XM_017012268.2:c.3188_3190delinsCTG	XP_016867757.1:n.3188_3190delinsCTG
XM_017012269.1:c.47_49delinsCTG	XP_016867758.1:n.47_49delinsCTG
XM_017012270.1:c.47_49delinsCTG	XP_016867759.1:n.47_49delinsCTG
XM_017012271.2:c.47_49delinsCTG	XP_016867760.1:n.47_49delinsCTG
XM_017012272.1:c.47_49delinsCTG	XP_016867761.1:n.47_49delinsCTG
XM_017012274.2:c.3188_3190delinsCTG	XP_016867763.1:n.3188_3190delinsCTG
XM_017012275.2:c.3188_3190delinsCTG	XP_016867764.1:n.3188_3190delinsCTG
XM_017012276.2:c.47_49delinsCTG	XP_016867765.1:n.47_49delinsCTG
XM_017012277.2:c.47_49delinsCTG	XP_016867766.1:n.47_49delinsCTG
XM_017012278.1:c.47_49delinsCTG	XP_016867767.1:n.47_49delinsCTG
XM_017012279.2:c.47_49delinsCTG	XP_016867768.1:n.47_49delinsCTG
XM_017012280.2:c.47_49delinsCTG	XP_016867769.1:n.47_49delinsCTG
XM_017012281.2:c.47_49delinsCTG	XP_016867770.1:n.47_49delinsCTG
XM_024446786.1:c.3188_3190delinsCTG	XP_024302554.1:n.3188_3190delinsCTG
XM_024446787.1:c.3188_3190delinsCTG	XP_024302555.1:n.3188_3190delinsCTG
XM_024446788.1:c.3188_3190delinsCTG	XP_024302556.1:n.3188_3190delinsCTG
XM_024446789.1:c.47_49delinsCTG	XP_024302557.1:n.47_49delinsCTG
NM_016203.4:c.47_49delinsCTG MANE Select	NP_057287.2:n.47_49delinsCTG
NM_001040633.2:c.47_49delinsCTG	NP_001035723.1:n.47_49delinsCTG
NM_001304527.2:c.47_49delinsCTG	NP_001291456.1:n.47_49delinsCTG
NM_001304531.2:c.47_49delinsCTG	NP_001291460.1:n.47_49delinsCTG
NM_001363698.2:c.47_49delinsCTG	NP_001350627.1:n.47_49delinsCTG
NM_024429.2:c.47_49delinsCTG	NP_077747.1:n.47_49delinsCTG

HGVS	Amino-acid Change
ENST00000478989.7:c.493_495delinsCTG	ENSP00000420645.3:n.493_495delinsCTG
ENST00000652321.2:c.47_49delinsCTG	ENSP00000498886.2:n.47_49delinsCTG
ENST00000287878.9:c.47_49delinsCTG MANE Select	ENSP00000287878.3:n.47_49delinsCTG
ENST00000476632.2:c.47_49delinsCTG	ENSP00000419493.2:n.47_49delinsCTG
ENST00000492843.6:c.47_49delinsCTG	ENSP00000419577.2:n.47_49delinsCTG
ENST00000650664.1:n.1472_1474delinsCTG
ENST00000650851.1:n.1251_1253delinsCTG
ENST00000650858.1:c.47_49delinsCTG	ENSP00000498384.1:n.47_49delinsCTG
ENST00000650948.1:n.4143_4145delinsCTG
ENST00000651188.1:c.870_872delinsCTG	ENSP00000498557.1:n.870_872delinsCTG
ENST00000651303.1:c.1076_1078delinsCTG	ENSP00000498428.1:n.1076_1078delinsCTG
ENST00000651378.1:c.47_49delinsCTG	ENSP00000499103.1:n.47_49delinsCTG
ENST00000651764.1:c.47_49delinsCTG	ENSP00000498796.1:n.47_49delinsCTG
ENST00000651836.1:c.1947_1949delinsCTG	ENSP00000499156.1:n.1947_1949delinsCTG
ENST00000651954.1:n.1973_1975delinsCTG
ENST00000652047.1:c.47_49delinsCTG	ENSP00000499111.1:n.47_49delinsCTG
ENST00000652136.1:n.2304_2306delinsCTG
ENST00000652159.1:c.47_49delinsCTG	ENSP00000499025.1:n.47_49delinsCTG
ENST00000652397.1:c.493_495delinsCTG	ENSP00000498351.1:n.493_495delinsCTG
ENST00000287878.8:c.47_49delinsCTG	ENSP00000287878.3:n.47_49delinsCTG
ENST00000392801.6:c.47_49delinsCTG	ENSP00000376549.2:n.47_49delinsCTG
ENST00000418337.6:c.47_49delinsCTG	ENSP00000387386.2:n.47_49delinsCTG
ENST00000479461.1:n.409_411delinsCTG
ENST00000492843.5:c.47_49delinsCTG	ENSP00000419577.1:n.47_49delinsCTG
NM_001040633.1:c.47_49delinsCTG	NP_001035723.1:n.47_49delinsCTG
NM_001304527.1:c.47_49delinsCTG	NP_001291456.1:n.47_49delinsCTG
NM_001304531.1:c.47_49delinsCTG	NP_001291460.1:n.47_49delinsCTG
NM_016203.3:c.47_49delinsCTG	NP_057287.2:n.47_49delinsCTG
NM_024429.1:c.47_49delinsCTG	NP_077747.1:n.47_49delinsCTG
XM_005250002.2:c.3188_3190delinsCTG	XP_005250059.1:n.3188_3190delinsCTG
XM_005250004.2:c.3188_3190delinsCTG	XP_005250061.1:n.3188_3190delinsCTG
XM_005250006.3:c.3188_3190delinsCTG	XP_005250063.1:n.3188_3190delinsCTG
XM_006716021.2:c.3188_3190delinsCTG	XP_006716084.1:n.3188_3190delinsCTG
XM_011516282.1:c.3188_3190delinsCTG	XP_011514584.1:n.3188_3190delinsCTG
XM_011516283.1:c.47_49delinsCTG	XP_011514585.1:n.47_49delinsCTG
XM_011516284.1:c.47_49delinsCTG	XP_011514586.1:n.47_49delinsCTG
XM_011516285.1:c.3188_3190delinsCTG	XP_011514587.1:n.3188_3190delinsCTG
XM_011516286.1:c.3188_3190delinsCTG	XP_011514588.1:n.3188_3190delinsCTG
XM_011516287.1:c.3188_3190delinsCTG	XP_011514589.1:n.3188_3190delinsCTG
NM_001363698.1:c.47_49delinsCTG	NP_001350627.1:n.47_49delinsCTG
XM_005250002.4:c.3188_3190delinsCTG	XP_005250059.1:n.3188_3190delinsCTG
XM_005250004.4:c.3188_3190delinsCTG	XP_005250061.1:n.3188_3190delinsCTG
XM_005250006.5:c.3188_3190delinsCTG	XP_005250063.1:n.3188_3190delinsCTG
XM_011516285.2:c.3188_3190delinsCTG	XP_011514587.1:n.3188_3190delinsCTG
XM_011516286.2:c.3188_3190delinsCTG	XP_011514588.1:n.3188_3190delinsCTG
XM_017012268.2:c.3188_3190delinsCTG	XP_016867757.1:n.3188_3190delinsCTG
XM_017012269.1:c.47_49delinsCTG	XP_016867758.1:n.47_49delinsCTG
XM_017012270.1:c.47_49delinsCTG	XP_016867759.1:n.47_49delinsCTG
XM_017012271.2:c.47_49delinsCTG	XP_016867760.1:n.47_49delinsCTG
XM_017012272.1:c.47_49delinsCTG	XP_016867761.1:n.47_49delinsCTG
XM_017012274.2:c.3188_3190delinsCTG	XP_016867763.1:n.3188_3190delinsCTG
XM_017012275.2:c.3188_3190delinsCTG	XP_016867764.1:n.3188_3190delinsCTG
XM_017012276.2:c.47_49delinsCTG	XP_016867765.1:n.47_49delinsCTG
XM_017012277.2:c.47_49delinsCTG	XP_016867766.1:n.47_49delinsCTG
XM_017012278.1:c.47_49delinsCTG	XP_016867767.1:n.47_49delinsCTG
XM_017012279.2:c.47_49delinsCTG	XP_016867768.1:n.47_49delinsCTG
XM_017012280.2:c.47_49delinsCTG	XP_016867769.1:n.47_49delinsCTG
XM_017012281.2:c.47_49delinsCTG	XP_016867770.1:n.47_49delinsCTG
XM_024446786.1:c.3188_3190delinsCTG	XP_024302554.1:n.3188_3190delinsCTG
XM_024446787.1:c.3188_3190delinsCTG	XP_024302555.1:n.3188_3190delinsCTG
XM_024446788.1:c.3188_3190delinsCTG	XP_024302556.1:n.3188_3190delinsCTG
XM_024446789.1:c.47_49delinsCTG	XP_024302557.1:n.47_49delinsCTG
NM_016203.4:c.47_49delinsCTG MANE Select	NP_057287.2:n.47_49delinsCTG
NM_001040633.2:c.47_49delinsCTG	NP_001035723.1:n.47_49delinsCTG
NM_001304527.2:c.47_49delinsCTG	NP_001291456.1:n.47_49delinsCTG
NM_001304531.2:c.47_49delinsCTG	NP_001291460.1:n.47_49delinsCTG
NM_001363698.2:c.47_49delinsCTG	NP_001350627.1:n.47_49delinsCTG
NM_024429.2:c.47_49delinsCTG	NP_077747.1:n.47_49delinsCTG