Canonical Allele Identifier: CA2575595130

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949842del , CM000676.2:g.87949842del	GRCh38
NC_000014.8:g.88416186del , CM000676.1:g.88416186del	GRCh37
NC_000014.7:g.87485939del	NCBI36
NG_011853.2:g.48723del
NG_011853.3:g.48723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1338+4del MANE Select	ENSP00000261304.2:n.1338+4del
ENST00000261304.6:c.1338+4del	ENSP00000261304.2:n.1338+4del
ENST00000393568.8:c.1269+4del	ENSP00000377198.4:n.1269+4del
ENST00000393569.6:c.1260+4del	ENSP00000377199.2:n.1260+4del
ENST00000544807.6:c.1170+4del	ENSP00000437513.2:n.1170+4del
ENST00000555000.5:c.705+4del	ENSP00000450472.1:n.705+4del
ENST00000555179.1:c.55+4del
ENST00000557316.5:c.*736+4del	ENSP00000452314.1:n.*736+4del
NM_000153.3:c.1338+4del	NP_000144.2:n.1338+4del
NM_001201401.1:c.1269+4del	NP_001188330.1:n.1269+4del
NM_001201402.1:c.1260+4del	NP_001188331.1:n.1260+4del
XM_011536618.1:c.1170+4del	XP_011534920.1:n.1170+4del
XM_011536618.2:c.1170+4del	XP_011534920.1:n.1170+4del
NM_000153.4:c.1338+4del MANE Select	NP_000144.2:n.1338+4del
NM_001201401.2:c.1269+4del	NP_001188330.1:n.1269+4del
NM_001201402.2:c.1260+4del	NP_001188331.1:n.1260+4del