Canonical Allele Identifier: CA2625980273

Gene: GALC

Linked Data

• gnomAD v4: 14-87968334-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968334_87968335insA , CM000676.2:g.87968334_87968335insA	GRCh38
NC_000014.8:g.88434678_88434679insA , CM000676.1:g.88434678_88434679insA	GRCh37
NC_000014.7:g.87504431_87504432insA	NCBI36
NG_011853.2:g.30229_30230insT
NG_011853.3:g.30229_30230insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908_908+1insT MANE Select	ENSP00000261304.2:n.908_908+1insT
ENST00000261304.6:c.908_908+1insT	ENSP00000261304.2:n.908_908+1insT
ENST00000393568.8:c.839_839+1insT	ENSP00000377198.4:n.839_839+1insT
ENST00000393569.6:c.830_830+1insT	ENSP00000377199.2:n.830_830+1insT
ENST00000474294.6:n.898_898+1insT
ENST00000544807.6:c.740_740+1insT	ENSP00000437513.2:n.740_740+1insT
ENST00000555000.5:c.275_275+1insT	ENSP00000450472.1:n.275_275+1insT
ENST00000557316.5:c.*306_*306+1insT	ENSP00000452314.1:n.*306_*306+1insT
ENST00000622264.4:c.898_898+1insT
NM_000153.3:c.908_908+1insT	NP_000144.2:n.908_908+1insT
NM_001201401.1:c.839_839+1insT	NP_001188330.1:n.839_839+1insT
NM_001201402.1:c.830_830+1insT	NP_001188331.1:n.830_830+1insT
XM_011536618.1:c.740_740+1insT	XP_011534920.1:n.740_740+1insT
XM_011536618.2:c.740_740+1insT	XP_011534920.1:n.740_740+1insT
NM_000153.4:c.908_908+1insT MANE Select	NP_000144.2:n.908_908+1insT
NM_001201401.2:c.839_839+1insT	NP_001188330.1:n.839_839+1insT
NM_001201402.2:c.830_830+1insT	NP_001188331.1:n.830_830+1insT