Canonical Allele Identifier: CA2625980267

Gene: GALC

Linked Data

• gnomAD v4: 14-87968319-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968324del , CM000676.2:g.87968324del	GRCh38
NC_000014.8:g.88434668del , CM000676.1:g.88434668del	GRCh37
NC_000014.7:g.87504421del	NCBI36
NG_011853.2:g.30244del
NG_011853.3:g.30244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+15del MANE Select	ENSP00000261304.2:n.908+15del
ENST00000261304.6:c.908+15del	ENSP00000261304.2:n.908+15del
ENST00000393568.8:c.839+15del	ENSP00000377198.4:n.839+15del
ENST00000393569.6:c.830+15del	ENSP00000377199.2:n.830+15del
ENST00000474294.6:n.898+15del
ENST00000544807.6:c.740+15del	ENSP00000437513.2:n.740+15del
ENST00000555000.5:c.275+15del	ENSP00000450472.1:n.275+15del
ENST00000557316.5:c.*306+15del	ENSP00000452314.1:n.*306+15del
ENST00000622264.4:c.898+15del
NM_000153.3:c.908+15del	NP_000144.2:n.908+15del
NM_001201401.1:c.839+15del	NP_001188330.1:n.839+15del
NM_001201402.1:c.830+15del	NP_001188331.1:n.830+15del
XM_011536618.1:c.740+15del	XP_011534920.1:n.740+15del
XM_011536618.2:c.740+15del	XP_011534920.1:n.740+15del
NM_000153.4:c.908+15del MANE Select	NP_000144.2:n.908+15del
NM_001201401.2:c.839+15del	NP_001188330.1:n.839+15del
NM_001201402.2:c.830+15del	NP_001188331.1:n.830+15del