Canonical Allele Identifier: CA1555776210
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685376_74685379delinsTGGC , CM000667.2:g.74685376_74685379delinsTGGC GRCh38
NC_000005.9:g.73981201_73981204delinsTGGC , CM000667.1:g.73981201_73981204delinsTGGC GRCh37
NC_000005.8:g.74016957_74016960delinsTGGC NCBI36
NG_009770.1:g.5233_5236delinsTGGC
NG_009770.2:g.50354_50357delinsTGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.116_119delinsTGGC MANE Select ENSP00000261416.7:p.Val39=
ENST00000261416.11:c.116_119delinsTGGC ENSP00000261416.7:p.Val39=
ENST00000511181.5:c.-376-3952_-376-3949delinsTGGC ENSP00000426285.1:n.-376-3952_-376-3949delinsTGGC
ENST00000513079.5:n.181_184delinsTGGC
ENST00000515528.1:n.171_174delinsTGGC
NM_000521.3:c.116_119delinsTGGC NP_000512.1:p.Val39=
NM_001292004.1:c.-376-3952_-376-3949delinsTGGC NP_001278933.1:n.-376-3952_-376-3949delinsTGGC
NM_000521.4:c.116_119delinsTGGC MANE Select NP_000512.2:p.Val39=
NM_001292004.2:c.-376-3952_-376-3949delinsTGGC NP_001278933.1:n.-376-3952_-376-3949delinsTGGC
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