Canonical Allele Identifier: CA2625978785

Gene: GALC

Linked Data

• gnomAD v4: 14-87941436-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941437del , CM000676.2:g.87941437del	GRCh38
NC_000014.8:g.88407781del , CM000676.1:g.88407781del	GRCh37
NC_000014.7:g.87477534del	NCBI36
NG_011853.2:g.57127del
NG_011853.3:g.57127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1792del MANE Select	ENSP00000261304.2:p.Trp598GlyfsTer14
ENST00000261304.6:c.1792del	ENSP00000261304.2:p.Trp598GlyfsTer14
ENST00000393568.8:c.1723del	ENSP00000377198.4:p.Trp575GlyfsTer14
ENST00000393569.6:c.1714del	ENSP00000377199.2:p.Trp572GlyfsTer14
ENST00000544807.6:c.1624del	ENSP00000437513.2:p.Trp542GlyfsTer14
ENST00000555000.5:c.1159del	ENSP00000450472.1:p.Trp387GlyfsTer14
ENST00000555179.1:c.328del
ENST00000557316.5:c.*1190del	ENSP00000452314.1:n.*1190del
NM_000153.3:c.1792del	NP_000144.2:p.Trp598GlyfsTer14
NM_001201401.1:c.1723del	NP_001188330.1:p.Trp575GlyfsTer14
NM_001201402.1:c.1714del	NP_001188331.1:p.Trp572GlyfsTer14
XM_011536618.1:c.1624del	XP_011534920.1:p.Trp542GlyfsTer14
XM_011536618.2:c.1624del	XP_011534920.1:p.Trp542GlyfsTer14
NM_000153.4:c.1792del MANE Select	NP_000144.2:p.Trp598GlyfsTer14
NM_001201401.2:c.1723del	NP_001188330.1:p.Trp575GlyfsTer14
NM_001201402.2:c.1714del	NP_001188331.1:p.Trp572GlyfsTer14