Canonical Allele Identifier: CA645581079

Gene: GALC

Linked Data

• gnomAD v4: 14-87945719-TA-T
• COSMIC: COSM4686229 ; COSM4686230

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945725del , CM000676.2:g.87945725del	GRCh38
NC_000014.8:g.88412069del , CM000676.1:g.88412069del	GRCh37
NC_000014.7:g.87481822del	NCBI36
NG_011853.2:g.52844del
NG_011853.3:g.52844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1503del MANE Select	ENSP00000261304.2:p.Phe501LeufsTer?
ENST00000261304.6:c.1503del	ENSP00000261304.2:p.Phe501LeufsTer?
ENST00000393568.8:c.1434del	ENSP00000377198.4:p.Phe478LeufsTer?
ENST00000393569.6:c.1425del	ENSP00000377199.2:p.Phe475LeufsTer?
ENST00000544807.6:c.1335del	ENSP00000437513.2:p.Phe445LeufsTer?
ENST00000555000.5:c.870del	ENSP00000450472.1:p.Phe290LeufsTer?
ENST00000555179.1:c.206+2008del
ENST00000557316.5:c.*901del	ENSP00000452314.1:n.*901del
NM_000153.3:c.1503del	NP_000144.2:p.Phe501LeufsTer?
NM_001201401.1:c.1434del	NP_001188330.1:p.Phe478LeufsTer?
NM_001201402.1:c.1425del	NP_001188331.1:p.Phe475LeufsTer?
XM_011536618.1:c.1335del	XP_011534920.1:p.Phe445LeufsTer?
XM_011536618.2:c.1335del	XP_011534920.1:p.Phe445LeufsTer?
NM_000153.4:c.1503del MANE Select	NP_000144.2:p.Phe501LeufsTer?
NM_001201401.2:c.1434del	NP_001188330.1:p.Phe478LeufsTer?
NM_001201402.2:c.1425del	NP_001188331.1:p.Phe475LeufsTer?