Canonical Allele Identifier: CA145799

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87950762del , CM000676.2:g.87950762del	GRCh38
NC_000014.8:g.88417106del , CM000676.1:g.88417106del	GRCh37
NC_000014.7:g.87486859del	NCBI36
NG_011853.2:g.47812del
NG_011853.3:g.47812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1162-4del MANE Select	ENSP00000261304.2:n.1162-4del
ENST00000261304.6:c.1162-4del	ENSP00000261304.2:n.1162-4del
ENST00000393568.8:c.1093-4del	ENSP00000377198.4:n.1093-4del
ENST00000393569.6:c.1084-4del	ENSP00000377199.2:n.1084-4del
ENST00000544807.6:c.994-4del	ENSP00000437513.2:n.994-4del
ENST00000555000.5:c.529-4del	ENSP00000450472.1:n.529-4del
ENST00000557316.5:c.*560-4del	ENSP00000452314.1:n.*560-4del
NM_000153.3:c.1162-4del	NP_000144.2:n.1162-4del
NM_001201401.1:c.1093-4del	NP_001188330.1:n.1093-4del
NM_001201402.1:c.1084-4del	NP_001188331.1:n.1084-4del
XM_011536618.1:c.994-4del	XP_011534920.1:n.994-4del
XM_011536618.2:c.994-4del	XP_011534920.1:n.994-4del
NM_000153.4:c.1162-4del MANE Select	NP_000144.2:n.1162-4del
NM_001201401.2:c.1093-4del	NP_001188330.1:n.1093-4del
NM_001201402.2:c.1084-4del	NP_001188331.1:n.1084-4del