Canonical Allele Identifier: CA2767028633
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689312_74689313insG , CM000667.2:g.74689312_74689313insG GRCh38
NC_000005.9:g.73985137_73985138insG , CM000667.1:g.73985137_73985138insG GRCh37
NC_000005.8:g.74020893_74020894insG NCBI36
NG_009770.1:g.9169_9170insG
NG_009770.2:g.54290_54291insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-16_300-15insG MANE Select ENSP00000261416.7:n.300-16_300-15insG
ENST00000261416.11:c.300-16_300-15insG ENSP00000261416.7:n.300-16_300-15insG
ENST00000511181.5:c.-376-16_-376-15insG ENSP00000426285.1:n.-376-16_-376-15insG
ENST00000513079.5:n.365-16_365-15insG
ENST00000515528.1:n.355-16_355-15insG
NM_000521.3:c.300-16_300-15insG NP_000512.1:n.300-16_300-15insG
NM_001292004.1:c.-376-16_-376-15insG NP_001278933.1:n.-376-16_-376-15insG
NM_000521.4:c.300-16_300-15insG MANE Select NP_000512.2:n.300-16_300-15insG
NM_001292004.2:c.-376-16_-376-15insG NP_001278933.1:n.-376-16_-376-15insG