Canonical Allele Identifier: CA2625958138

Gene: GALC

Linked Data

• gnomAD v4: 14-87933235-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933236del , CM000676.2:g.87933236del	GRCh38
NC_000014.8:g.88399580del , CM000676.1:g.88399580del	GRCh37
NC_000014.7:g.87469333del	NCBI36
NG_011853.2:g.65328del
NG_011853.3:g.65328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*1496del MANE Select	ENSP00000261304.2:n.*1496del
ENST00000261304.6:c.*1496del	ENSP00000261304.2:n.*1496del
ENST00000555000.5:c.*74+663del	ENSP00000450472.1:n.*74+663del
NM_000153.3:c.*1496del	NP_000144.2:n.*1496del
NM_001201401.1:c.*1496del	NP_001188330.1:n.*1496del
NM_001201402.1:c.*1496del	NP_001188331.1:n.*1496del
XM_011536618.1:c.*1496del	XP_011534920.1:n.*1496del
XM_011536618.2:c.*1496del	XP_011534920.1:n.*1496del
NM_000153.4:c.*1496del MANE Select	NP_000144.2:n.*1496del
NM_001201401.2:c.*1496del	NP_001188330.1:n.*1496del
NM_001201402.2:c.*1496del	NP_001188331.1:n.*1496del