Canonical Allele Identifier: CA1846328696

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219938_36219941delinsCACA , CM000671.2:g.36219938_36219941delinsCACA	GRCh38
NC_000009.11:g.36219935_36219938delinsCACA , CM000671.1:g.36219935_36219938delinsCACA	GRCh37
NC_000009.10:g.36209935_36209938delinsCACA	NCBI36
NG_008246.1:g.62104_62107delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1806_1809delinsTGTG (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Val602=
ENST00000543356.7:c.1536_1539delinsTGTG (GNE)	ENSP00000437765.3:p.Val512=
ENST00000642385.2:c.1713_1716delinsTGTG (GNE) MANE Select	ENSP00000494141.2:p.Val571=
ENST00000377902.5:c.1713_1716delinsTGTG (GNE)	ENSP00000367134.4:p.Val571=
ENST00000396594.7:c.1806_1809delinsTGTG (GNE)	ENSP00000379839.3:p.Val602=
ENST00000447283.6:c.1491_1494delinsTGTG (GNE)	ENSP00000414760.2:p.Val497=
ENST00000464497.5:c.485+15759_485+15762delinsCACA (CLTA)	ENSP00000419158.1:n.485+15759_485+15762delinsCACA
ENST00000539208.5:c.1383_1386delinsTGTG (GNE)	ENSP00000445117.1:p.Val461=
ENST00000539815.5:c.1713_1716delinsTGTG (GNE)	ENSP00000439155.1:p.Val571=
ENST00000543356.6:c.1698_1701delinsTGTG (GNE)	ENSP00000437765.2:p.Val566=
NM_001128227.2:c.1806_1809delinsTGTG (GNE)	NP_001121699.1:p.Val602=
NM_001190383.1:c.1491_1494delinsTGTG (GNE)	NP_001177312.1:p.Val497=
NM_001190384.1:c.1383_1386delinsTGTG (GNE)	NP_001177313.1:p.Val461=
NM_001190388.1:c.1698_1701delinsTGTG (GNE)	NP_001177317.1:p.Val566=
NM_005476.5:c.1713_1716delinsTGTG (GNE)	NP_005467.1:p.Val571=
XM_005251334.3:c.1653_1656delinsTGTG (GNE)	XP_005251391.1:p.Val551=
NM_001190383.2:c.1491_1494delinsTGTG (GNE)	NP_001177312.1:p.Val497=
NM_001190384.2:c.1383_1386delinsTGTG (GNE)	NP_001177313.1:p.Val461=
NM_005476.6:c.1713_1716delinsTGTG (GNE)	NP_005467.1:p.Val571=
XM_005251334.4:c.1653_1656delinsTGTG (GNE)	XP_005251391.1:p.Val551=
XM_017014167.1:c.1713_1716delinsTGTG (GNE)	XP_016869656.1:p.Val571=
XM_017014168.1:c.1560_1563delinsTGTG (GNE)	XP_016869657.1:p.Val520=
NM_001128227.3:c.1806_1809delinsTGTG (GNE) MANE Plus Clinical	NP_001121699.1:p.Val602=
NM_001190383.3:c.1491_1494delinsTGTG (GNE)	NP_001177312.1:p.Val497=
NM_001190384.3:c.1383_1386delinsTGTG (GNE)	NP_001177313.1:p.Val461=
NM_001190388.2:c.1536_1539delinsTGTG (GNE)	NP_001177317.2:p.Val512=
NM_001374797.1:c.1560_1563delinsTGTG (GNE)	NP_001361726.1:p.Val520=
NM_001374798.1:c.1536_1539delinsTGTG (GNE)	NP_001361727.1:p.Val512=
NM_005476.7:c.1713_1716delinsTGTG (GNE) MANE Select	NP_005467.1:p.Val571=