Canonical Allele Identifier: CA2507758770

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968200_87968201insTT , CM000676.2:g.87968200_87968201insTT	GRCh38
NC_000014.8:g.88434544_88434545insTT , CM000676.1:g.88434544_88434545insTT	GRCh37
NC_000014.7:g.87504297_87504298insTT	NCBI36
NG_011853.2:g.30364_30365insAA
NG_011853.3:g.30364_30365insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+135_908+136insAA MANE Select	ENSP00000261304.2:n.908+135_908+136insAA
ENST00000261304.6:c.908+135_908+136insAA	ENSP00000261304.2:n.908+135_908+136insAA
ENST00000393568.8:c.839+135_839+136insAA	ENSP00000377198.4:n.839+135_839+136insAA
ENST00000393569.6:c.830+135_830+136insAA	ENSP00000377199.2:n.830+135_830+136insAA
ENST00000474294.6:n.898+135_898+136insAA
ENST00000544807.6:c.740+135_740+136insAA	ENSP00000437513.2:n.740+135_740+136insAA
ENST00000555000.5:c.275+135_275+136insAA	ENSP00000450472.1:n.275+135_275+136insAA
ENST00000557316.5:c.*306+135_*306+136insAA	ENSP00000452314.1:n.*306+135_*306+136insAA
ENST00000622264.4:c.898+135_898+136insAA
NM_000153.3:c.908+135_908+136insAA	NP_000144.2:n.908+135_908+136insAA
NM_001201401.1:c.839+135_839+136insAA	NP_001188330.1:n.839+135_839+136insAA
NM_001201402.1:c.830+135_830+136insAA	NP_001188331.1:n.830+135_830+136insAA
XM_011536618.1:c.740+135_740+136insAA	XP_011534920.1:n.740+135_740+136insAA
XM_011536618.2:c.740+135_740+136insAA	XP_011534920.1:n.740+135_740+136insAA
NM_000153.4:c.908+135_908+136insAA MANE Select	NP_000144.2:n.908+135_908+136insAA
NM_001201401.2:c.839+135_839+136insAA	NP_001188330.1:n.839+135_839+136insAA
NM_001201402.2:c.830+135_830+136insAA	NP_001188331.1:n.830+135_830+136insAA