Canonical Allele Identifier: CA7297138
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 444335
dbSNP Id: rs759068540

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87963382_87963391del , CM000676.2:g.87963382_87963391del GRCh38
NC_000014.8:g.88429726_88429735del , CM000676.1:g.88429726_88429735del GRCh37
NC_000014.7:g.87499479_87499488del NCBI36
NG_011853.2:g.35177_35186del
NG_011853.3:g.35177_35186del

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1158_1161+6del
ENST00000261304.6:c.1158_1161+6del
ENST00000393568.8:c.1089_1092+6del
ENST00000393569.6:c.1080_1083+6del
ENST00000474294.6:n.1148_1157del
ENST00000544807.6:c.990_993+6del
ENST00000555000.5:c.525_528+6del
ENST00000557316.5:c.*556_*559+6del
ENST00000557520.1:n.244_247+6del
ENST00000622264.4:c.1148_1157del
NM_000153.3:c.1158_1161+6del
NM_001201401.1:c.1089_1092+6del
NM_001201402.1:c.1080_1083+6del
XM_011536618.1:c.990_993+6del
XM_011536618.2:c.990_993+6del
NM_000153.4:c.1158_1161+6del
NM_001201401.2:c.1089_1092+6del
NM_001201402.2:c.1080_1083+6del