Canonical Allele Identifier: CA913109142
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73981254_73981255del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685429_74685430del , CM000667.2:g.74685429_74685430del GRCh38
NC_000005.9:g.73981254_73981255del , CM000667.1:g.73981254_73981255del GRCh37
NC_000005.8:g.74017010_74017011del NCBI36
NG_009770.1:g.5286_5287del
NG_009770.2:g.50407_50408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.169_170del MANE Select ENSP00000261416.7:p.Trp57AlafsTer?
ENST00000261416.11:c.169_170del ENSP00000261416.7:p.Trp57AlafsTer?
ENST00000511181.5:c.-376-3899_-376-3898del ENSP00000426285.1:n.-376-3899_-376-3898del
ENST00000513079.5:n.234_235del
ENST00000515528.1:n.224_225del
NM_000521.3:c.169_170del NP_000512.1:p.Trp57AlafsTer?
NM_001292004.1:c.-376-3899_-376-3898del NP_001278933.1:n.-376-3899_-376-3898del
NM_000521.4:c.169_170del MANE Select NP_000512.2:p.Trp57AlafsTer?
NM_001292004.2:c.-376-3899_-376-3898del NP_001278933.1:n.-376-3899_-376-3898del
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