Canonical Allele Identifier: CA058550
Community Standard Title: NM_016203.4(PRKAG2):c.865-14del
Gene: PRKAG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151576467del , CM000669.2:g.151576467del GRCh38
NC_000007.13:g.151273553del , CM000669.1:g.151273553del GRCh37
NC_000007.12:g.150904486del NCBI36
NG_007486.1:g.305765del
NG_007486.2:g.305766del

Transcript Alleles

HGVS Amino-acid Change
NM_016203.4:c.865-14del MANE Select NP_057287.2:n.865-14del
ENST00000287878.9:c.865-14del MANE Select ENSP00000287878.3:n.865-14del
NM_001040633.1:c.733-14del NP_001035723.1:n.733-14del
NM_001040633.2:c.733-14del NP_001035723.1:n.733-14del
NM_001304527.1:c.490-14del NP_001291456.1:n.490-14del
NM_001304527.2:c.490-14del NP_001291456.1:n.490-14del
NM_001304531.1:c.142-14del NP_001291460.1:n.142-14del
NM_001304531.2:c.142-14del NP_001291460.1:n.142-14del
NM_001363698.1:c.493-14del NP_001350627.1:n.493-14del
NM_001363698.2:c.493-14del NP_001350627.1:n.493-14del
NM_016203.3:c.865-14del NP_057287.2:n.865-14del
NM_024429.1:c.142-14del NP_077747.1:n.142-14del
NM_024429.2:c.142-14del NP_077747.1:n.142-14del
ENST00000287878.8:c.865-14del ENSP00000287878.3:n.865-14del
ENST00000392801.6:c.733-14del ENSP00000376549.2:n.733-14del
ENST00000418337.6:c.142-14del ENSP00000387386.2:n.142-14del
ENST00000476632.1:c.142-14del ENSP00000419493.1:n.142-14del
ENST00000476632.2:c.142-14del ENSP00000419493.2:n.142-14del
ENST00000478989.7:c.139-14del ENSP00000420645.3:n.139-14del
ENST00000483775.1:n.270-14del
ENST00000488258.5:c.*105-14del ENSP00000420783.1:n.*105-14del
ENST00000491938.5:n.211-14del
ENST00000491938.6:n.208-14del
ENST00000492843.5:c.493-14del ENSP00000419577.1:n.493-14del
ENST00000492843.6:c.490-14del ENSP00000419577.2:n.490-14del
ENST00000493872.5:c.*114-14del ENSP00000417252.1:n.*114-14del
ENST00000650851.1:n.359-14del
ENST00000650858.1:c.82-14del ENSP00000498384.1:n.82-14del
ENST00000650948.1:n.980-14del
ENST00000651188.1:c.*105-14del ENSP00000498557.1:n.*105-14del
ENST00000651290.1:n.67-14del
ENST00000651303.1:c.*184-14del ENSP00000498428.1:n.*184-14del
ENST00000651378.1:c.142-14del ENSP00000499103.1:n.142-14del
ENST00000651764.1:c.733-14del ENSP00000498796.1:n.733-14del
ENST00000651836.1:c.633-14del ENSP00000499156.1:n.633-14del
ENST00000652047.1:c.730-14del ENSP00000499111.1:n.730-14del
ENST00000652136.1:n.598-14del
ENST00000652159.1:c.733-14del ENSP00000499025.1:n.733-14del
ENST00000652321.2:c.862-14del ENSP00000498886.2:n.862-14del
ENST00000652397.1:c.142-14del ENSP00000498351.1:n.142-14del
ENST00000652572.1:n.246-14del
XM_005250002.2:c.865-14del XP_005250059.1:n.865-14del
XM_005250002.4:c.865-14del XP_005250059.1:n.865-14del
XM_005250004.2:c.733-14del XP_005250061.1:n.733-14del
XM_005250004.4:c.733-14del XP_005250061.1:n.733-14del
XM_005250006.3:c.493-14del XP_005250063.1:n.493-14del
XM_005250006.5:c.493-14del XP_005250063.1:n.493-14del
XM_006716021.2:c.853-14del XP_006716084.1:n.853-14del
XM_011516282.1:c.850-14del XP_011514584.1:n.850-14del
XM_011516283.1:c.853-14del XP_011514585.1:n.853-14del
XM_011516284.1:c.850-14del XP_011514586.1:n.850-14del
XM_011516285.1:c.142-14del XP_011514587.1:n.142-14del
XM_011516285.2:c.142-14del XP_011514587.1:n.142-14del
XM_011516286.1:c.118-14del XP_011514588.1:n.118-14del
XM_011516286.2:c.118-14del XP_011514588.1:n.118-14del
XM_011516287.1:c.82-14del XP_011514589.1:n.82-14del
XM_017012268.2:c.730-14del XP_016867757.1:n.730-14del
XM_017012269.1:c.862-14del XP_016867758.1:n.862-14del
XM_017012270.1:c.733-14del XP_016867759.1:n.733-14del
XM_017012271.2:c.730-14del XP_016867760.1:n.730-14del
XM_017012272.1:c.730-14del XP_016867761.1:n.730-14del
XM_017012274.2:c.139-14del XP_016867763.1:n.139-14del
XM_017012275.2:c.82-14del XP_016867764.1:n.82-14del
XM_017012276.2:c.139-14del XP_016867765.1:n.139-14del
XM_017012277.2:c.118-14del XP_016867766.1:n.118-14del
XM_017012278.1:c.82-14del XP_016867767.1:n.82-14del
XM_017012279.2:c.82-14del XP_016867768.1:n.82-14del
XM_017012280.2:c.82-14del XP_016867769.1:n.82-14del
XM_017012281.2:c.82-14del XP_016867770.1:n.82-14del
XM_024446786.1:c.733-14del XP_024302554.1:n.733-14del
XM_024446787.1:c.142-14del XP_024302555.1:n.142-14del
XM_024446788.1:c.139-14del XP_024302556.1:n.139-14del
XM_024446789.1:c.142-14del XP_024302557.1:n.142-14del