Canonical Allele Identifier: CA2580088867

Gene: GALC

Linked Data

• ClinVar Variation Id: 2133482
• ClinVar RCV Id: RCV003056303

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947765_87947769del , CM000676.2:g.87947765_87947769del	GRCh38
NC_000014.8:g.88414109_88414113del , CM000676.1:g.88414109_88414113del	GRCh37
NC_000014.7:g.87483862_87483866del	NCBI36
NG_011853.2:g.50798_50802del
NG_011853.3:g.50798_50802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1451_1455del MANE Select	ENSP00000261304.2:p.Gln484LeufsTer6
ENST00000261304.6:c.1451_1455del	ENSP00000261304.2:p.Gln484LeufsTer6
ENST00000393568.8:c.1382_1386del	ENSP00000377198.4:p.Gln461LeufsTer6
ENST00000393569.6:c.1373_1377del	ENSP00000377199.2:p.Gln458LeufsTer6
ENST00000544807.6:c.1283_1287del	ENSP00000437513.2:p.Gln428LeufsTer6
ENST00000555000.5:c.818_822del	ENSP00000450472.1:p.Gln273LeufsTer6
ENST00000555179.1:c.168_172del
ENST00000557316.5:c.*849_*853del	ENSP00000452314.1:n.*849_*853del
NM_000153.3:c.1451_1455del	NP_000144.2:p.Gln484LeufsTer6
NM_001201401.1:c.1382_1386del	NP_001188330.1:p.Gln461LeufsTer6
NM_001201402.1:c.1373_1377del	NP_001188331.1:p.Gln458LeufsTer6
XM_011536618.1:c.1283_1287del	XP_011534920.1:p.Gln428LeufsTer6
XM_011536618.2:c.1283_1287del	XP_011534920.1:p.Gln428LeufsTer6
NM_000153.4:c.1451_1455del MANE Select	NP_000144.2:p.Gln484LeufsTer6
NM_001201401.2:c.1382_1386del	NP_001188330.1:p.Gln461LeufsTer6
NM_001201402.2:c.1373_1377del	NP_001188331.1:p.Gln458LeufsTer6