Canonical Allele Identifier: CA7296833

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934785_87934788del , CM000676.2:g.87934785_87934788del	GRCh38
NC_000014.8:g.88401129_88401132del , CM000676.1:g.88401129_88401132del	GRCh37
NC_000014.7:g.87470882_87470885del	NCBI36
NG_011853.2:g.63780_63783del
NG_011853.3:g.63780_63783del

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.2006_2009del MANE Select	NP_000144.2:p.His669ProfsTer19
ENST00000261304.7:c.2006_2009del MANE Select	ENSP00000261304.2:p.His669ProfsTer19
NM_000153.3:c.2006_2009del	NP_000144.2:p.His669ProfsTer19
NM_001201401.1:c.1937_1940del	NP_001188330.1:p.His646ProfsTer19
NM_001201401.2:c.1937_1940del	NP_001188330.1:p.His646ProfsTer19
NM_001201402.1:c.1928_1931del	NP_001188331.1:p.His643ProfsTer19
NM_001201402.2:c.1928_1931del	NP_001188331.1:p.His643ProfsTer19
ENST00000261304.6:c.2006_2009del	ENSP00000261304.2:p.His669ProfsTer19
ENST00000393568.8:c.1937_1940del	ENSP00000377198.4:p.His646ProfsTer19
ENST00000393569.6:c.1928_1931del	ENSP00000377199.2:p.His643ProfsTer19
ENST00000544807.6:c.1744-785_1744-782del	ENSP00000437513.2:n.1744-785_1744-782del
ENST00000555000.5:c.1279-785_1279-782del	ENSP00000450472.1:n.1279-785_1279-782del
ENST00000555179.1:c.542_545del
XM_011536618.1:c.1838_1841del	XP_011534920.1:p.His613ProfsTer19
XM_011536618.2:c.1838_1841del	XP_011534920.1:p.His613ProfsTer19