Canonical Allele Identifier: CA2186761743
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376050_72376051delinsCG , CM000677.2:g.72376050_72376051delinsCG GRCh38
NC_000015.9:g.72668391_72668392delinsCG , CM000677.1:g.72668391_72668392delinsCG GRCh37
NC_000015.8:g.70455445_70455446delinsCG NCBI36
NG_009017.1:g.5129_5130delinsCG
NG_009017.2:g.5129_5130delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-79_-78delinsCG ENSP00000268097.5:n.-79_-78delinsCG
ENST00000569509.5:n.147-220_147-219delinsCG
NM_000520.4:c.-79_-78delinsCG NP_000511.2:n.-79_-78delinsCG
NM_000520.5:c.-79_-78delinsCG NP_000511.2:n.-79_-78delinsCG
NM_001318825.1:c.-79_-78delinsCG NP_001305754.1:n.-79_-78delinsCG
NR_134869.1:n.423_424delinsCG