Canonical Allele Identifier: CA2153386591

Gene: GALC

Linked Data

• dbSNP Id: rs1886980729

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986545_87986546insCACAA , CM000676.2:g.87986545_87986546insCACAA	GRCh38
NC_000014.8:g.88452889_88452890insCACAA , CM000676.1:g.88452889_88452890insCACAA	GRCh37
NC_000014.7:g.87522642_87522643insCACAA	NCBI36
NG_011853.2:g.12018_12019insTTGTG
NG_011853.3:g.12018_12019insTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.385_386insTTGTG MANE Select	ENSP00000261304.2:p.Tyr129PhefsTer7
ENST00000261304.6:c.385_386insTTGTG	ENSP00000261304.2:p.Tyr129PhefsTer7
ENST00000393568.8:c.316_317insTTGTG	ENSP00000377198.4:p.Tyr106PhefsTer7
ENST00000393569.6:c.307_308insTTGTG	ENSP00000377199.2:p.Tyr103PhefsTer7
ENST00000474294.6:n.375_376insTTGTG
ENST00000544807.6:c.217_218insTTGTG	ENSP00000437513.2:p.Tyr73PhefsTer7
ENST00000554372.5:c.*134_*135insTTGTG	ENSP00000451884.1:n.*134_*135insTTGTG
ENST00000554916.5:n.264_265insTTGTG
ENST00000556261.5:n.86_87insTTGTG
ENST00000556879.5:c.445_446insTTGTG	ENSP00000452208.1:n.445_446insTTGTG
ENST00000557316.5:c.385_386insTTGTG	ENSP00000452314.1:p.Tyr129PhefsTer7
ENST00000622264.4:c.375_376insTTGTG
NM_000153.3:c.385_386insTTGTG	NP_000144.2:p.Tyr129PhefsTer7
NM_001201401.1:c.316_317insTTGTG	NP_001188330.1:p.Tyr106PhefsTer7
NM_001201402.1:c.307_308insTTGTG	NP_001188331.1:p.Tyr103PhefsTer7
XM_011536618.1:c.217_218insTTGTG	XP_011534920.1:p.Tyr73PhefsTer7
XM_011536618.2:c.217_218insTTGTG	XP_011534920.1:p.Tyr73PhefsTer7
NM_000153.4:c.385_386insTTGTG MANE Select	NP_000144.2:p.Tyr129PhefsTer7
NM_001201401.2:c.316_317insTTGTG	NP_001188330.1:p.Tyr106PhefsTer7
NM_001201402.2:c.307_308insTTGTG	NP_001188331.1:p.Tyr103PhefsTer7