Canonical Allele Identifier: CA2625960319

Gene: GALC

Linked Data

• ClinVar Variation Id: 2727088
• ClinVar RCV Id: RCV003504298
• gnomAD v4: 14-87976418-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976421del , CM000676.2:g.87976421del	GRCh38
NC_000014.8:g.88442765del , CM000676.1:g.88442765del	GRCh37
NC_000014.7:g.87512518del	NCBI36
NG_011853.2:g.22145del
NG_011853.3:g.22145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.691del MANE Select	ENSP00000261304.2:p.Glu231SerfsTer20
ENST00000261304.6:c.691del	ENSP00000261304.2:p.Glu231SerfsTer20
ENST00000393568.8:c.622del	ENSP00000377198.4:p.Glu208SerfsTer20
ENST00000393569.6:c.613del	ENSP00000377199.2:p.Glu205SerfsTer20
ENST00000474294.6:n.681del
ENST00000477716.3:n.446del
ENST00000544807.6:c.523del	ENSP00000437513.2:p.Glu175SerfsTer20
ENST00000554916.5:n.570del
ENST00000555000.5:c.58del	ENSP00000450472.1:p.Glu20SerfsTer20
ENST00000557316.5:c.*89del	ENSP00000452314.1:n.*89del
ENST00000622264.4:c.681del
NM_000153.3:c.691del	NP_000144.2:p.Glu231SerfsTer20
NM_001201401.1:c.622del	NP_001188330.1:p.Glu208SerfsTer20
NM_001201402.1:c.613del	NP_001188331.1:p.Glu205SerfsTer20
XM_011536618.1:c.523del	XP_011534920.1:p.Glu175SerfsTer20
XM_011536618.2:c.523del	XP_011534920.1:p.Glu175SerfsTer20
NM_000153.4:c.691del MANE Select	NP_000144.2:p.Glu231SerfsTer20
NM_001201401.2:c.622del	NP_001188330.1:p.Glu208SerfsTer20
NM_001201402.2:c.613del	NP_001188331.1:p.Glu205SerfsTer20