Canonical Allele Identifier: CA1555779309
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs1748937999
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689123del , CM000667.2:g.74689123del GRCh38
NC_000005.9:g.73984948del , CM000667.1:g.73984948del GRCh37
NC_000005.8:g.74020704del NCBI36
NG_009770.1:g.8980del
NG_009770.2:g.54101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-205del MANE Select ENSP00000261416.7:n.300-205del
ENST00000261416.11:c.300-205del ENSP00000261416.7:n.300-205del
ENST00000511181.5:c.-376-205del ENSP00000426285.1:n.-376-205del
ENST00000513079.5:n.365-205del
ENST00000515528.1:n.355-205del
NM_000521.3:c.300-205del NP_000512.1:n.300-205del
NM_001292004.1:c.-376-205del NP_001278933.1:n.-376-205del
NM_000521.4:c.300-205del MANE Select NP_000512.2:n.300-205del
NM_001292004.2:c.-376-205del NP_001278933.1:n.-376-205del
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