Canonical Allele Identifier: CA1846328682

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219932_36219933delinsCA , CM000671.2:g.36219932_36219933delinsCA	GRCh38
NC_000009.11:g.36219929_36219930delinsCA , CM000671.1:g.36219929_36219930delinsCA	GRCh37
NC_000009.10:g.36209929_36209930delinsCA	NCBI36
NG_008246.1:g.62112_62113delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1814_1815delinsTG (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu605=
ENST00000543356.7:c.1544_1545delinsTG (GNE)	ENSP00000437765.3:p.Leu515=
ENST00000642385.2:c.1721_1722delinsTG (GNE) MANE Select	ENSP00000494141.2:p.Leu574=
ENST00000377902.5:c.1721_1722delinsTG (GNE)	ENSP00000367134.4:p.Leu574=
ENST00000396594.7:c.1814_1815delinsTG (GNE)	ENSP00000379839.3:p.Leu605=
ENST00000447283.6:c.1499_1500delinsTG (GNE)	ENSP00000414760.2:p.Leu500=
ENST00000464497.5:c.485+15753_485+15754delinsCA (CLTA)	ENSP00000419158.1:n.485+15753_485+15754delinsCA
ENST00000539208.5:c.1391_1392delinsTG (GNE)	ENSP00000445117.1:p.Leu464=
ENST00000539815.5:c.1721_1722delinsTG (GNE)	ENSP00000439155.1:p.Leu574=
ENST00000543356.6:c.1706_1707delinsTG (GNE)	ENSP00000437765.2:p.Leu569=
NM_001128227.2:c.1814_1815delinsTG (GNE)	NP_001121699.1:p.Leu605=
NM_001190383.1:c.1499_1500delinsTG (GNE)	NP_001177312.1:p.Leu500=
NM_001190384.1:c.1391_1392delinsTG (GNE)	NP_001177313.1:p.Leu464=
NM_001190388.1:c.1706_1707delinsTG (GNE)	NP_001177317.1:p.Leu569=
NM_005476.5:c.1721_1722delinsTG (GNE)	NP_005467.1:p.Leu574=
XM_005251334.3:c.1661_1662delinsTG (GNE)	XP_005251391.1:p.Leu554=
NM_001190383.2:c.1499_1500delinsTG (GNE)	NP_001177312.1:p.Leu500=
NM_001190384.2:c.1391_1392delinsTG (GNE)	NP_001177313.1:p.Leu464=
NM_005476.6:c.1721_1722delinsTG (GNE)	NP_005467.1:p.Leu574=
XM_005251334.4:c.1661_1662delinsTG (GNE)	XP_005251391.1:p.Leu554=
XM_017014167.1:c.1721_1722delinsTG (GNE)	XP_016869656.1:p.Leu574=
XM_017014168.1:c.1568_1569delinsTG (GNE)	XP_016869657.1:p.Leu523=
NM_001128227.3:c.1814_1815delinsTG (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu605=
NM_001190383.3:c.1499_1500delinsTG (GNE)	NP_001177312.1:p.Leu500=
NM_001190384.3:c.1391_1392delinsTG (GNE)	NP_001177313.1:p.Leu464=
NM_001190388.2:c.1544_1545delinsTG (GNE)	NP_001177317.2:p.Leu515=
NM_001374797.1:c.1568_1569delinsTG (GNE)	NP_001361726.1:p.Leu523=
NM_001374798.1:c.1544_1545delinsTG (GNE)	NP_001361727.1:p.Leu515=
NM_005476.7:c.1721_1722delinsTG (GNE) MANE Select	NP_005467.1:p.Leu574=