Canonical Allele Identifier: CA2565225097
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74689295-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689296del , CM000667.2:g.74689296del GRCh38
NC_000005.9:g.73985121del , CM000667.1:g.73985121del GRCh37
NC_000005.8:g.74020877del NCBI36
NG_009770.1:g.9153del
NG_009770.2:g.54274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-32del MANE Select ENSP00000261416.7:n.300-32del
ENST00000261416.11:c.300-32del ENSP00000261416.7:n.300-32del
ENST00000511181.5:c.-376-32del ENSP00000426285.1:n.-376-32del
ENST00000513079.5:n.365-32del
ENST00000515528.1:n.355-32del
NM_000521.3:c.300-32del NP_000512.1:n.300-32del
NM_001292004.1:c.-376-32del NP_001278933.1:n.-376-32del
NM_000521.4:c.300-32del MANE Select NP_000512.2:n.300-32del
NM_001292004.2:c.-376-32del NP_001278933.1:n.-376-32del
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