Canonical Allele Identifier: CA2625961465

Gene: GALC

Linked Data

• gnomAD v4: 14-87982083-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982085del , CM000676.2:g.87982085del	GRCh38
NC_000014.8:g.88448429del , CM000676.1:g.88448429del	GRCh37
NC_000014.7:g.87518182del	NCBI36
NG_011853.2:g.16480del
NG_011853.3:g.16480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+121del MANE Select	ENSP00000261304.2:n.621+121del
ENST00000261304.6:c.621+121del	ENSP00000261304.2:n.621+121del
ENST00000393568.8:c.552+121del	ENSP00000377198.4:n.552+121del
ENST00000393569.6:c.543+121del	ENSP00000377199.2:n.543+121del
ENST00000474294.6:n.611+121del
ENST00000544807.6:c.453+121del	ENSP00000437513.2:n.453+121del
ENST00000554916.5:n.500+121del
ENST00000556261.5:n.322+121del
ENST00000557316.5:c.621+121del	ENSP00000452314.1:n.621+121del
ENST00000622264.4:c.611+121del
NM_000153.3:c.621+121del	NP_000144.2:n.621+121del
NM_001201401.1:c.552+121del	NP_001188330.1:n.552+121del
NM_001201402.1:c.543+121del	NP_001188331.1:n.543+121del
XM_011536618.1:c.453+121del	XP_011534920.1:n.453+121del
XM_011536618.2:c.453+121del	XP_011534920.1:n.453+121del
NM_000153.4:c.621+121del MANE Select	NP_000144.2:n.621+121del
NM_001201401.2:c.552+121del	NP_001188330.1:n.552+121del
NM_001201402.2:c.543+121del	NP_001188331.1:n.543+121del