Canonical Allele Identifier: CA2153381860

Gene: GALC

Linked Data

• dbSNP Id: rs1886503503
• gnomAD v3: 14-87976604-CTTT-C
• gnomAD v4: 14-87976604-CTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976606_87976608del , CM000676.2:g.87976606_87976608del	GRCh38
NC_000014.8:g.88442950_88442952del , CM000676.1:g.88442950_88442952del	GRCh37
NC_000014.7:g.87512703_87512705del	NCBI36
NG_011853.2:g.21957_21959del
NG_011853.3:g.21957_21959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-119_622-117del MANE Select	ENSP00000261304.2:n.622-119_622-117del
ENST00000261304.6:c.622-119_622-117del	ENSP00000261304.2:n.622-119_622-117del
ENST00000393568.8:c.553-119_553-117del	ENSP00000377198.4:n.553-119_553-117del
ENST00000393569.6:c.544-119_544-117del	ENSP00000377199.2:n.544-119_544-117del
ENST00000474294.6:n.612-119_612-117del
ENST00000477716.3:n.258_260del
ENST00000544807.6:c.454-119_454-117del	ENSP00000437513.2:n.454-119_454-117del
ENST00000554916.5:n.501-119_501-117del
ENST00000555000.5:c.-12-119_-12-117del	ENSP00000450472.1:n.-12-119_-12-117del
ENST00000557316.5:c.*20-119_*20-117del	ENSP00000452314.1:n.*20-119_*20-117del
ENST00000622264.4:c.612-119_612-117del
NM_000153.3:c.622-119_622-117del	NP_000144.2:n.622-119_622-117del
NM_001201401.1:c.553-119_553-117del	NP_001188330.1:n.553-119_553-117del
NM_001201402.1:c.544-119_544-117del	NP_001188331.1:n.544-119_544-117del
XM_011536618.1:c.454-119_454-117del	XP_011534920.1:n.454-119_454-117del
XM_011536618.2:c.454-119_454-117del	XP_011534920.1:n.454-119_454-117del
NM_000153.4:c.622-119_622-117del MANE Select	NP_000144.2:n.622-119_622-117del
NM_001201401.2:c.553-119_553-117del	NP_001188330.1:n.553-119_553-117del
NM_001201402.2:c.544-119_544-117del	NP_001188331.1:n.544-119_544-117del