Canonical Allele Identifier: CA2625960374

Gene: GALC

Linked Data

• gnomAD v4: 14-87976601-CTTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976604_87976608del , CM000676.2:g.87976604_87976608del	GRCh38
NC_000014.8:g.88442948_88442952del , CM000676.1:g.88442948_88442952del	GRCh37
NC_000014.7:g.87512701_87512705del	NCBI36
NG_011853.2:g.21958_21962del
NG_011853.3:g.21958_21962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-118_622-114del MANE Select	ENSP00000261304.2:n.622-118_622-114del
ENST00000261304.6:c.622-118_622-114del	ENSP00000261304.2:n.622-118_622-114del
ENST00000393568.8:c.553-118_553-114del	ENSP00000377198.4:n.553-118_553-114del
ENST00000393569.6:c.544-118_544-114del	ENSP00000377199.2:n.544-118_544-114del
ENST00000474294.6:n.612-118_612-114del
ENST00000477716.3:n.259_263del
ENST00000544807.6:c.454-118_454-114del	ENSP00000437513.2:n.454-118_454-114del
ENST00000554916.5:n.501-118_501-114del
ENST00000555000.5:c.-12-118_-12-114del	ENSP00000450472.1:n.-12-118_-12-114del
ENST00000557316.5:c.*20-118_*20-114del	ENSP00000452314.1:n.*20-118_*20-114del
ENST00000622264.4:c.612-118_612-114del
NM_000153.3:c.622-118_622-114del	NP_000144.2:n.622-118_622-114del
NM_001201401.1:c.553-118_553-114del	NP_001188330.1:n.553-118_553-114del
NM_001201402.1:c.544-118_544-114del	NP_001188331.1:n.544-118_544-114del
XM_011536618.1:c.454-118_454-114del	XP_011534920.1:n.454-118_454-114del
XM_011536618.2:c.454-118_454-114del	XP_011534920.1:n.454-118_454-114del
NM_000153.4:c.622-118_622-114del MANE Select	NP_000144.2:n.622-118_622-114del
NM_001201401.2:c.553-118_553-114del	NP_001188330.1:n.553-118_553-114del
NM_001201402.2:c.544-118_544-114del	NP_001188331.1:n.544-118_544-114del