Canonical Allele Identifier: CA2674240527
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74718735-CTTTCAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718741_74718746del , CM000667.2:g.74718741_74718746del GRCh38
NC_000005.9:g.74014566_74014571del , CM000667.1:g.74014566_74014571del GRCh37
NC_000005.8:g.74050322_74050327del NCBI36
NG_009770.1:g.38598_38603del
NG_009770.2:g.83719_83724del

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.1243-56_1243-51del MANE Select ENSP00000261416.7:n.1243-56_1243-51del
ENST00000261416.11:c.1243-56_1243-51del ENSP00000261416.7:n.1243-56_1243-51del
ENST00000503312.5:c.119-56_119-51del
ENST00000504459.5:n.440-56_440-51del
ENST00000511181.5:c.568-56_568-51del ENSP00000426285.1:n.568-56_568-51del
ENST00000513336.5:c.179-56_179-51del
ENST00000513539.1:n.74-168_74-163del
NM_000521.3:c.1243-56_1243-51del NP_000512.1:n.1243-56_1243-51del
NM_001292004.1:c.568-56_568-51del NP_001278933.1:n.568-56_568-51del
NM_000521.4:c.1243-56_1243-51del MANE Select NP_000512.2:n.1243-56_1243-51del
NM_001292004.2:c.568-56_568-51del NP_001278933.1:n.568-56_568-51del
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