Canonical Allele Identifier: CA487355602

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414072_88414073delCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947728_87947729del , CM000676.2:g.87947728_87947729del	GRCh38
NC_000014.8:g.88414072_88414073del , CM000676.1:g.88414072_88414073del	GRCh37
NC_000014.7:g.87483825_87483826del	NCBI36
NG_011853.2:g.50835_50836del
NG_011853.3:g.50835_50836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1488_1489del MANE Select	ENSP00000261304.2:p.Asp497LeufsTer5
ENST00000261304.6:c.1488_1489del	ENSP00000261304.2:p.Asp497LeufsTer5
ENST00000393568.8:c.1419_1420del	ENSP00000377198.4:p.Asp474LeufsTer5
ENST00000393569.6:c.1410_1411del	ENSP00000377199.2:p.Asp471LeufsTer5
ENST00000544807.6:c.1320_1321del	ENSP00000437513.2:p.Asp441LeufsTer5
ENST00000555000.5:c.855_856del	ENSP00000450472.1:p.Asp286LeufsTer5
ENST00000555179.1:c.205_206del
ENST00000557316.5:c.*886_*887del	ENSP00000452314.1:n.*886_*887del
NM_000153.3:c.1488_1489del	NP_000144.2:p.Asp497LeufsTer5
NM_001201401.1:c.1419_1420del	NP_001188330.1:p.Asp474LeufsTer5
NM_001201402.1:c.1410_1411del	NP_001188331.1:p.Asp471LeufsTer5
XM_011536618.1:c.1320_1321del	XP_011534920.1:p.Asp441LeufsTer5
XM_011536618.2:c.1320_1321del	XP_011534920.1:p.Asp441LeufsTer5
NM_000153.4:c.1488_1489del MANE Select	NP_000144.2:p.Asp497LeufsTer5
NM_001201401.2:c.1419_1420del	NP_001188330.1:p.Asp474LeufsTer5
NM_001201402.2:c.1410_1411del	NP_001188331.1:p.Asp471LeufsTer5