Canonical Allele Identifier: CA2625979035

Gene: GALC

Linked Data

• gnomAD v4: 14-87945732-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945734_87945735dup , CM000676.2:g.87945734_87945735dup	GRCh38
NC_000014.8:g.88412078_88412079dup , CM000676.1:g.88412078_88412079dup	GRCh37
NC_000014.7:g.87481831_87481832dup	NCBI36
NG_011853.2:g.52830_52831dup
NG_011853.3:g.52830_52831dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1490-1_1490dup
ENST00000261304.6:c.1490-1_1490dup
ENST00000393568.8:c.1421-1_1421dup
ENST00000393569.6:c.1412-1_1412dup
ENST00000544807.6:c.1322-1_1322dup
ENST00000555000.5:c.857-1_857dup
ENST00000555179.1:c.206+1994_206+1995dup
ENST00000557316.5:c.*888-1_*888dup
NM_000153.3:c.1490-1_1490dup
NM_001201401.1:c.1421-1_1421dup
NM_001201402.1:c.1412-1_1412dup
XM_011536618.1:c.1322-1_1322dup
XM_011536618.2:c.1322-1_1322dup
NM_000153.4:c.1490-1_1490dup
NM_001201401.2:c.1421-1_1421dup
NM_001201402.2:c.1412-1_1412dup