Canonical Allele Identifier: CA2153358740
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87947725_87947729delinsCACCA , CM000676.2:g.87947725_87947729delinsCACCA GRCh38
NC_000014.8:g.88414069_88414073delinsCACCA , CM000676.1:g.88414069_88414073delinsCACCA GRCh37
NC_000014.7:g.87483822_87483826delinsCACCA NCBI36
NG_011853.2:g.50835_50839delinsTGGTG
NG_011853.3:g.50835_50839delinsTGGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1488_1489+3delinsTGGTG
ENST00000261304.6:c.1488_1489+3delinsTGGTG
ENST00000393568.8:c.1419_1420+3delinsTGGTG
ENST00000393569.6:c.1410_1411+3delinsTGGTG
ENST00000544807.6:c.1320_1321+3delinsTGGTG
ENST00000555000.5:c.855_856+3delinsTGGTG
ENST00000555179.1:c.205_206+3delinsTGGTG
ENST00000557316.5:c.*886_*887+3delinsTGGTG
NM_000153.3:c.1488_1489+3delinsTGGTG
NM_001201401.1:c.1419_1420+3delinsTGGTG
NM_001201402.1:c.1410_1411+3delinsTGGTG
XM_011536618.1:c.1320_1321+3delinsTGGTG
XM_011536618.2:c.1320_1321+3delinsTGGTG
NM_000153.4:c.1488_1489+3delinsTGGTG
NM_001201401.2:c.1419_1420+3delinsTGGTG
NM_001201402.2:c.1410_1411+3delinsTGGTG