Canonical Allele Identifier: CA2153384508

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982124_87982127delinsCCTA , CM000676.2:g.87982124_87982127delinsCCTA	GRCh38
NC_000014.8:g.88448468_88448471delinsCCTA , CM000676.1:g.88448468_88448471delinsCCTA	GRCh37
NC_000014.7:g.87518221_87518224delinsCCTA	NCBI36
NG_011853.2:g.16437_16440delinsTAGG
NG_011853.3:g.16437_16440delinsTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+78_621+81delinsTAGG MANE Select	ENSP00000261304.2:n.621+78_621+81delinsTAGG
ENST00000261304.6:c.621+78_621+81delinsTAGG	ENSP00000261304.2:n.621+78_621+81delinsTAGG
ENST00000393568.8:c.552+78_552+81delinsTAGG	ENSP00000377198.4:n.552+78_552+81delinsTAGG
ENST00000393569.6:c.543+78_543+81delinsTAGG	ENSP00000377199.2:n.543+78_543+81delinsTAGG
ENST00000474294.6:n.611+78_611+81delinsTAGG
ENST00000544807.6:c.453+78_453+81delinsTAGG	ENSP00000437513.2:n.453+78_453+81delinsTAGG
ENST00000554916.5:n.500+78_500+81delinsTAGG
ENST00000556261.5:n.322+78_322+81delinsTAGG
ENST00000557316.5:c.621+78_621+81delinsTAGG	ENSP00000452314.1:n.621+78_621+81delinsTAGG
ENST00000622264.4:c.611+78_611+81delinsTAGG
NM_000153.3:c.621+78_621+81delinsTAGG	NP_000144.2:n.621+78_621+81delinsTAGG
NM_001201401.1:c.552+78_552+81delinsTAGG	NP_001188330.1:n.552+78_552+81delinsTAGG
NM_001201402.1:c.543+78_543+81delinsTAGG	NP_001188331.1:n.543+78_543+81delinsTAGG
XM_011536618.1:c.453+78_453+81delinsTAGG	XP_011534920.1:n.453+78_453+81delinsTAGG
XM_011536618.2:c.453+78_453+81delinsTAGG	XP_011534920.1:n.453+78_453+81delinsTAGG
NM_000153.4:c.621+78_621+81delinsTAGG MANE Select	NP_000144.2:n.621+78_621+81delinsTAGG
NM_001201401.2:c.552+78_552+81delinsTAGG	NP_001188330.1:n.552+78_552+81delinsTAGG
NM_001201402.2:c.543+78_543+81delinsTAGG	NP_001188331.1:n.543+78_543+81delinsTAGG