Canonical Allele Identifier: CA2625958964

Gene: GALC

Linked Data

• gnomAD v4: 14-87934712-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934714_87934715del , CM000676.2:g.87934714_87934715del	GRCh38
NC_000014.8:g.88401058_88401059del , CM000676.1:g.88401058_88401059del	GRCh37
NC_000014.7:g.87470811_87470812del	NCBI36
NG_011853.2:g.63850_63851del
NG_011853.3:g.63850_63851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*18_*19del MANE Select	ENSP00000261304.2:n.*18_*19del
ENST00000261304.6:c.*18_*19del	ENSP00000261304.2:n.*18_*19del
ENST00000393568.8:c.*18_*19del	ENSP00000377198.4:n.*18_*19del
ENST00000393569.6:c.*18_*19del	ENSP00000377199.2:n.*18_*19del
ENST00000544807.6:c.1744-715_1744-714del	ENSP00000437513.2:n.1744-715_1744-714del
ENST00000555000.5:c.1279-715_1279-714del	ENSP00000450472.1:n.1279-715_1279-714del
NM_000153.3:c.*18_*19del	NP_000144.2:n.*18_*19del
NM_001201401.1:c.*18_*19del	NP_001188330.1:n.*18_*19del
NM_001201402.1:c.*18_*19del	NP_001188331.1:n.*18_*19del
XM_011536618.1:c.*18_*19del	XP_011534920.1:n.*18_*19del
XM_011536618.2:c.*18_*19del	XP_011534920.1:n.*18_*19del
NM_000153.4:c.*18_*19del MANE Select	NP_000144.2:n.*18_*19del
NM_001201401.2:c.*18_*19del	NP_001188330.1:n.*18_*19del
NM_001201402.2:c.*18_*19del	NP_001188331.1:n.*18_*19del