Canonical Allele Identifier: CA2625978460

Gene: GALC

Linked Data

• gnomAD v4: 14-87939765-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939767del , CM000676.2:g.87939767del	GRCh38
NC_000014.8:g.88406111del , CM000676.1:g.88406111del	GRCh37
NC_000014.7:g.87475864del	NCBI36
NG_011853.2:g.58798del
NG_011853.3:g.58798del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+139del MANE Select	ENSP00000261304.2:n.1911+139del
ENST00000261304.6:c.1911+139del	ENSP00000261304.2:n.1911+139del
ENST00000393568.8:c.1842+139del	ENSP00000377198.4:n.1842+139del
ENST00000393569.6:c.1833+139del	ENSP00000377199.2:n.1833+139del
ENST00000544807.6:c.1743+139del	ENSP00000437513.2:n.1743+139del
ENST00000555000.5:c.1278+139del	ENSP00000450472.1:n.1278+139del
ENST00000555179.1:c.447+139del
NM_000153.3:c.1911+139del	NP_000144.2:n.1911+139del
NM_001201401.1:c.1842+139del	NP_001188330.1:n.1842+139del
NM_001201402.1:c.1833+139del	NP_001188331.1:n.1833+139del
XM_011536618.1:c.1743+139del	XP_011534920.1:n.1743+139del
XM_011536618.2:c.1743+139del	XP_011534920.1:n.1743+139del
NM_000153.4:c.1911+139del MANE Select	NP_000144.2:n.1911+139del
NM_001201401.2:c.1842+139del	NP_001188330.1:n.1842+139del
NM_001201402.2:c.1833+139del	NP_001188331.1:n.1833+139del