Canonical Allele Identifier: CA2499222749

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934803del , CM000676.2:g.87934803del	GRCh38
NC_000014.8:g.88401147del , CM000676.1:g.88401147del	GRCh37
NC_000014.7:g.87470900del	NCBI36
NG_011853.2:g.63761del
NG_011853.3:g.63761del

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1987del MANE Select	NP_000144.2:p.Trp663GlyfsTer26
ENST00000261304.7:c.1987del MANE Select	ENSP00000261304.2:p.Trp663GlyfsTer26
NM_000153.3:c.1987del	NP_000144.2:p.Trp663GlyfsTer26
NM_001201401.1:c.1918del	NP_001188330.1:p.Trp640GlyfsTer26
NM_001201401.2:c.1918del	NP_001188330.1:p.Trp640GlyfsTer26
NM_001201402.1:c.1909del	NP_001188331.1:p.Trp637GlyfsTer26
NM_001201402.2:c.1909del	NP_001188331.1:p.Trp637GlyfsTer26
ENST00000261304.6:c.1987del	ENSP00000261304.2:p.Trp663GlyfsTer26
ENST00000393568.8:c.1918del	ENSP00000377198.4:p.Trp640GlyfsTer26
ENST00000393569.6:c.1909del	ENSP00000377199.2:p.Trp637GlyfsTer26
ENST00000544807.6:c.1744-804del	ENSP00000437513.2:n.1744-804del
ENST00000555000.5:c.1279-804del	ENSP00000450472.1:n.1279-804del
ENST00000555179.1:c.523del
XM_011536618.1:c.1819del	XP_011534920.1:p.Trp607GlyfsTer26
XM_011536618.2:c.1819del	XP_011534920.1:p.Trp607GlyfsTer26