Canonical Allele Identifier: CA2625958966

Gene: GALC

Linked Data

• dbSNP Id: rs2139925378
• gnomAD v4: 14-87934721-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934722_87934723del , CM000676.2:g.87934722_87934723del	GRCh38
NC_000014.8:g.88401066_88401067del , CM000676.1:g.88401066_88401067del	GRCh37
NC_000014.7:g.87470819_87470820del	NCBI36
NG_011853.2:g.63841_63842del
NG_011853.3:g.63841_63842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*9_*10del MANE Select	ENSP00000261304.2:n.*9_*10del
ENST00000261304.6:c.*9_*10del	ENSP00000261304.2:n.*9_*10del
ENST00000393568.8:c.*9_*10del	ENSP00000377198.4:n.*9_*10del
ENST00000393569.6:c.*9_*10del	ENSP00000377199.2:n.*9_*10del
ENST00000544807.6:c.1744-724_1744-723del	ENSP00000437513.2:n.1744-724_1744-723del
ENST00000555000.5:c.1279-724_1279-723del	ENSP00000450472.1:n.1279-724_1279-723del
NM_000153.3:c.*9_*10del	NP_000144.2:n.*9_*10del
NM_001201401.1:c.*9_*10del	NP_001188330.1:n.*9_*10del
NM_001201402.1:c.*9_*10del	NP_001188331.1:n.*9_*10del
XM_011536618.1:c.*9_*10del	XP_011534920.1:n.*9_*10del
XM_011536618.2:c.*9_*10del	XP_011534920.1:n.*9_*10del
NM_000153.4:c.*9_*10del MANE Select	NP_000144.2:n.*9_*10del
NM_001201401.2:c.*9_*10del	NP_001188330.1:n.*9_*10del
NM_001201402.2:c.*9_*10del	NP_001188331.1:n.*9_*10del