Canonical Allele Identifier: CA1846328489

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36219872_36219873delinsCA , CM000671.2:g.36219872_36219873delinsCA GRCh38
NC_000009.11:g.36219869_36219870delinsCA , CM000671.1:g.36219869_36219870delinsCA GRCh37
NC_000009.10:g.36209869_36209870delinsCA NCBI36
NG_008246.1:g.62172_62173delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1874_1875delinsTG (GNE) MANE Plus Clinical ENSP00000379839.3:p.Met625=
ENST00000543356.7:c.1604_1605delinsTG (GNE) ENSP00000437765.3:p.Met535=
ENST00000642385.2:c.1781_1782delinsTG (GNE) MANE Select ENSP00000494141.2:p.Met594=
ENST00000377902.5:c.1781_1782delinsTG (GNE) ENSP00000367134.4:p.Met594=
ENST00000396594.7:c.1874_1875delinsTG (GNE) ENSP00000379839.3:p.Met625=
ENST00000447283.6:c.1559_1560delinsTG (GNE) ENSP00000414760.2:p.Met520=
ENST00000464497.5:c.485+15693_485+15694delinsCA (CLTA) ENSP00000419158.1:n.485+15693_485+15694de...
ENST00000539208.5:c.1451_1452delinsTG (GNE) ENSP00000445117.1:p.Met484=
ENST00000539815.5:c.1781_1782delinsTG (GNE) ENSP00000439155.1:p.Met594=
ENST00000543356.6:c.1766_1767delinsTG (GNE) ENSP00000437765.2:p.Met589=
NM_001128227.2:c.1874_1875delinsTG (GNE) NP_001121699.1:p.Met625=
NM_001190383.1:c.1559_1560delinsTG (GNE) NP_001177312.1:p.Met520=
NM_001190384.1:c.1451_1452delinsTG (GNE) NP_001177313.1:p.Met484=
NM_001190388.1:c.1766_1767delinsTG (GNE) NP_001177317.1:p.Met589=
NM_005476.5:c.1781_1782delinsTG (GNE) NP_005467.1:p.Met594=
XM_005251334.3:c.1721_1722delinsTG (GNE) XP_005251391.1:p.Met574=
NM_001190383.2:c.1559_1560delinsTG (GNE) NP_001177312.1:p.Met520=
NM_001190384.2:c.1451_1452delinsTG (GNE) NP_001177313.1:p.Met484=
NM_005476.6:c.1781_1782delinsTG (GNE) NP_005467.1:p.Met594=
XM_005251334.4:c.1721_1722delinsTG (GNE) XP_005251391.1:p.Met574=
XM_017014167.1:c.1781_1782delinsTG (GNE) XP_016869656.1:p.Met594=
XM_017014168.1:c.1628_1629delinsTG (GNE) XP_016869657.1:p.Met543=
NM_001128227.3:c.1874_1875delinsTG (GNE) MANE Plus Clinical NP_001121699.1:p.Met625=
NM_001190383.3:c.1559_1560delinsTG (GNE) NP_001177312.1:p.Met520=
NM_001190384.3:c.1451_1452delinsTG (GNE) NP_001177313.1:p.Met484=
NM_001190388.2:c.1604_1605delinsTG (GNE) NP_001177317.2:p.Met535=
NM_001374797.1:c.1628_1629delinsTG (GNE) NP_001361726.1:p.Met543=
NM_001374798.1:c.1604_1605delinsTG (GNE) NP_001361727.1:p.Met535=
NM_005476.7:c.1781_1782delinsTG (GNE) MANE Select NP_005467.1:p.Met594=