Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151556234_151556235delinsGC , CM000669.2:g.151556234_151556235delinsGC	GRCh38
NC_000007.13:g.151253320_151253321delinsGC , CM000669.1:g.151253320_151253321delinsGC	GRCh37
NC_000007.12:g.150884253_150884254delinsGC	NCBI36
NG_007486.1:g.325996_325997delinsGC
NG_007486.2:g.325997_325998delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478989.7:c.1412_1413delinsGC	ENSP00000420645.3:n.1412_1413delinsGC
ENST00000652321.2:c.966_967delinsGC	ENSP00000498886.2:n.966_967delinsGC
ENST00000287878.9:c.966_967delinsGC MANE Select	ENSP00000287878.3:n.966_967delinsGC
ENST00000476632.2:c.966_967delinsGC	ENSP00000419493.2:n.966_967delinsGC
ENST00000492843.6:c.966_967delinsGC	ENSP00000419577.2:n.966_967delinsGC
ENST00000650664.1:n.2391_2392delinsGC
ENST00000650851.1:n.2170_2171delinsGC
ENST00000650948.1:n.5062_5063delinsGC
ENST00000651303.1:c.1995_1996delinsGC	ENSP00000498428.1:n.1995_1996delinsGC
ENST00000651764.1:c.966_967delinsGC	ENSP00000498796.1:n.966_967delinsGC
ENST00000651836.1:c.2866_2867delinsGC	ENSP00000499156.1:n.2866_2867delinsGC
ENST00000651954.1:n.2892_2893delinsGC
ENST00000652136.1:n.3223_3224delinsGC
ENST00000652159.1:c.966_967delinsGC	ENSP00000499025.1:n.966_967delinsGC
ENST00000287878.8:c.966_967delinsGC	ENSP00000287878.3:n.966_967delinsGC
ENST00000418337.6:c.966_967delinsGC	ENSP00000387386.2:n.966_967delinsGC
ENST00000492843.5:c.966_967delinsGC	ENSP00000419577.1:n.966_967delinsGC
NM_001040633.1:c.966_967delinsGC	NP_001035723.1:n.966_967delinsGC
NM_001304527.1:c.966_967delinsGC	NP_001291456.1:n.966_967delinsGC
NM_001304531.1:c.966_967delinsGC	NP_001291460.1:n.966_967delinsGC
NM_016203.3:c.966_967delinsGC	NP_057287.2:n.966_967delinsGC
NM_024429.1:c.966_967delinsGC	NP_077747.1:n.966_967delinsGC
XM_005250002.2:c.4107_4108delinsGC	XP_005250059.1:n.4107_4108delinsGC
XM_005250004.2:c.4107_4108delinsGC	XP_005250061.1:n.4107_4108delinsGC
XM_005250006.3:c.4107_4108delinsGC	XP_005250063.1:n.4107_4108delinsGC
XM_006716021.2:c.4107_4108delinsGC	XP_006716084.1:n.4107_4108delinsGC
XM_011516282.1:c.4107_4108delinsGC	XP_011514584.1:n.4107_4108delinsGC
XM_011516283.1:c.966_967delinsGC	XP_011514585.1:n.966_967delinsGC
XM_011516284.1:c.966_967delinsGC	XP_011514586.1:n.966_967delinsGC
XM_011516285.1:c.4107_4108delinsGC	XP_011514587.1:n.4107_4108delinsGC
XM_011516286.1:c.4107_4108delinsGC	XP_011514588.1:n.4107_4108delinsGC
XM_011516287.1:c.4107_4108delinsGC	XP_011514589.1:n.4107_4108delinsGC
NM_001363698.1:c.966_967delinsGC	NP_001350627.1:n.966_967delinsGC
XM_005250002.4:c.4107_4108delinsGC	XP_005250059.1:n.4107_4108delinsGC
XM_005250004.4:c.4107_4108delinsGC	XP_005250061.1:n.4107_4108delinsGC
XM_005250006.5:c.4107_4108delinsGC	XP_005250063.1:n.4107_4108delinsGC
XM_011516285.2:c.4107_4108delinsGC	XP_011514587.1:n.4107_4108delinsGC
XM_011516286.2:c.4107_4108delinsGC	XP_011514588.1:n.4107_4108delinsGC
XM_017012268.2:c.4107_4108delinsGC	XP_016867757.1:n.4107_4108delinsGC
XM_017012269.1:c.966_967delinsGC	XP_016867758.1:n.966_967delinsGC
XM_017012270.1:c.966_967delinsGC	XP_016867759.1:n.966_967delinsGC
XM_017012271.2:c.966_967delinsGC	XP_016867760.1:n.966_967delinsGC
XM_017012272.1:c.966_967delinsGC	XP_016867761.1:n.966_967delinsGC
XM_017012274.2:c.4107_4108delinsGC	XP_016867763.1:n.4107_4108delinsGC
XM_017012275.2:c.4107_4108delinsGC	XP_016867764.1:n.4107_4108delinsGC
XM_017012276.2:c.966_967delinsGC	XP_016867765.1:n.966_967delinsGC
XM_017012277.2:c.966_967delinsGC	XP_016867766.1:n.966_967delinsGC
XM_017012278.1:c.966_967delinsGC	XP_016867767.1:n.966_967delinsGC
XM_017012279.2:c.966_967delinsGC	XP_016867768.1:n.966_967delinsGC
XM_017012280.2:c.966_967delinsGC	XP_016867769.1:n.966_967delinsGC
XM_017012281.2:c.966_967delinsGC	XP_016867770.1:n.966_967delinsGC
XM_024446786.1:c.4107_4108delinsGC	XP_024302554.1:n.4107_4108delinsGC
XM_024446787.1:c.4107_4108delinsGC	XP_024302555.1:n.4107_4108delinsGC
XM_024446788.1:c.4107_4108delinsGC	XP_024302556.1:n.4107_4108delinsGC
XM_024446789.1:c.966_967delinsGC	XP_024302557.1:n.966_967delinsGC
NM_016203.4:c.966_967delinsGC MANE Select	NP_057287.2:n.966_967delinsGC
NM_001040633.2:c.966_967delinsGC	NP_001035723.1:n.966_967delinsGC
NM_001304527.2:c.966_967delinsGC	NP_001291456.1:n.966_967delinsGC
NM_001304531.2:c.966_967delinsGC	NP_001291460.1:n.966_967delinsGC
NM_001363698.2:c.966_967delinsGC	NP_001350627.1:n.966_967delinsGC
NM_024429.2:c.966_967delinsGC	NP_077747.1:n.966_967delinsGC

HGVS	Amino-acid Change
ENST00000478989.7:c.1412_1413delinsGC	ENSP00000420645.3:n.1412_1413delinsGC
ENST00000652321.2:c.966_967delinsGC	ENSP00000498886.2:n.966_967delinsGC
ENST00000287878.9:c.966_967delinsGC MANE Select	ENSP00000287878.3:n.966_967delinsGC
ENST00000476632.2:c.966_967delinsGC	ENSP00000419493.2:n.966_967delinsGC
ENST00000492843.6:c.966_967delinsGC	ENSP00000419577.2:n.966_967delinsGC
ENST00000650664.1:n.2391_2392delinsGC
ENST00000650851.1:n.2170_2171delinsGC
ENST00000650948.1:n.5062_5063delinsGC
ENST00000651303.1:c.1995_1996delinsGC	ENSP00000498428.1:n.1995_1996delinsGC
ENST00000651764.1:c.966_967delinsGC	ENSP00000498796.1:n.966_967delinsGC
ENST00000651836.1:c.2866_2867delinsGC	ENSP00000499156.1:n.2866_2867delinsGC
ENST00000651954.1:n.2892_2893delinsGC
ENST00000652136.1:n.3223_3224delinsGC
ENST00000652159.1:c.966_967delinsGC	ENSP00000499025.1:n.966_967delinsGC
ENST00000287878.8:c.966_967delinsGC	ENSP00000287878.3:n.966_967delinsGC
ENST00000418337.6:c.966_967delinsGC	ENSP00000387386.2:n.966_967delinsGC
ENST00000492843.5:c.966_967delinsGC	ENSP00000419577.1:n.966_967delinsGC
NM_001040633.1:c.966_967delinsGC	NP_001035723.1:n.966_967delinsGC
NM_001304527.1:c.966_967delinsGC	NP_001291456.1:n.966_967delinsGC
NM_001304531.1:c.966_967delinsGC	NP_001291460.1:n.966_967delinsGC
NM_016203.3:c.966_967delinsGC	NP_057287.2:n.966_967delinsGC
NM_024429.1:c.966_967delinsGC	NP_077747.1:n.966_967delinsGC
XM_005250002.2:c.4107_4108delinsGC	XP_005250059.1:n.4107_4108delinsGC
XM_005250004.2:c.4107_4108delinsGC	XP_005250061.1:n.4107_4108delinsGC
XM_005250006.3:c.4107_4108delinsGC	XP_005250063.1:n.4107_4108delinsGC
XM_006716021.2:c.4107_4108delinsGC	XP_006716084.1:n.4107_4108delinsGC
XM_011516282.1:c.4107_4108delinsGC	XP_011514584.1:n.4107_4108delinsGC
XM_011516283.1:c.966_967delinsGC	XP_011514585.1:n.966_967delinsGC
XM_011516284.1:c.966_967delinsGC	XP_011514586.1:n.966_967delinsGC
XM_011516285.1:c.4107_4108delinsGC	XP_011514587.1:n.4107_4108delinsGC
XM_011516286.1:c.4107_4108delinsGC	XP_011514588.1:n.4107_4108delinsGC
XM_011516287.1:c.4107_4108delinsGC	XP_011514589.1:n.4107_4108delinsGC
NM_001363698.1:c.966_967delinsGC	NP_001350627.1:n.966_967delinsGC
XM_005250002.4:c.4107_4108delinsGC	XP_005250059.1:n.4107_4108delinsGC
XM_005250004.4:c.4107_4108delinsGC	XP_005250061.1:n.4107_4108delinsGC
XM_005250006.5:c.4107_4108delinsGC	XP_005250063.1:n.4107_4108delinsGC
XM_011516285.2:c.4107_4108delinsGC	XP_011514587.1:n.4107_4108delinsGC
XM_011516286.2:c.4107_4108delinsGC	XP_011514588.1:n.4107_4108delinsGC
XM_017012268.2:c.4107_4108delinsGC	XP_016867757.1:n.4107_4108delinsGC
XM_017012269.1:c.966_967delinsGC	XP_016867758.1:n.966_967delinsGC
XM_017012270.1:c.966_967delinsGC	XP_016867759.1:n.966_967delinsGC
XM_017012271.2:c.966_967delinsGC	XP_016867760.1:n.966_967delinsGC
XM_017012272.1:c.966_967delinsGC	XP_016867761.1:n.966_967delinsGC
XM_017012274.2:c.4107_4108delinsGC	XP_016867763.1:n.4107_4108delinsGC
XM_017012275.2:c.4107_4108delinsGC	XP_016867764.1:n.4107_4108delinsGC
XM_017012276.2:c.966_967delinsGC	XP_016867765.1:n.966_967delinsGC
XM_017012277.2:c.966_967delinsGC	XP_016867766.1:n.966_967delinsGC
XM_017012278.1:c.966_967delinsGC	XP_016867767.1:n.966_967delinsGC
XM_017012279.2:c.966_967delinsGC	XP_016867768.1:n.966_967delinsGC
XM_017012280.2:c.966_967delinsGC	XP_016867769.1:n.966_967delinsGC
XM_017012281.2:c.966_967delinsGC	XP_016867770.1:n.966_967delinsGC
XM_024446786.1:c.4107_4108delinsGC	XP_024302554.1:n.4107_4108delinsGC
XM_024446787.1:c.4107_4108delinsGC	XP_024302555.1:n.4107_4108delinsGC
XM_024446788.1:c.4107_4108delinsGC	XP_024302556.1:n.4107_4108delinsGC
XM_024446789.1:c.966_967delinsGC	XP_024302557.1:n.966_967delinsGC
NM_016203.4:c.966_967delinsGC MANE Select	NP_057287.2:n.966_967delinsGC
NM_001040633.2:c.966_967delinsGC	NP_001035723.1:n.966_967delinsGC
NM_001304527.2:c.966_967delinsGC	NP_001291456.1:n.966_967delinsGC
NM_001304531.2:c.966_967delinsGC	NP_001291460.1:n.966_967delinsGC
NM_001363698.2:c.966_967delinsGC	NP_001350627.1:n.966_967delinsGC
NM_024429.2:c.966_967delinsGC	NP_077747.1:n.966_967delinsGC