Canonical Allele Identifier: CA2674237811
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685331-C-CGGCGATGTT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685336_74685344dup , CM000667.2:g.74685336_74685344dup GRCh38
NC_000005.9:g.73981161_73981169dup , CM000667.1:g.73981161_73981169dup GRCh37
NC_000005.8:g.74016917_74016925dup NCBI36
NG_009770.1:g.5193_5201dup
NG_009770.2:g.50314_50322dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.76_84dup MANE Select ENSP00000261416.7:p.Ala28_Leu29insMetLeuAla
ENST00000261416.11:c.76_84dup ENSP00000261416.7:p.Ala28_Leu29insMetLeuAla
ENST00000511181.5:c.-376-3992_-376-3984dup ENSP00000426285.1:n.-376-3992_-376-3984dup
ENST00000513079.5:n.141_149dup
ENST00000515528.1:n.131_139dup
NM_000521.3:c.76_84dup NP_000512.1:p.Ala28_Leu29insMetLeuAla
NM_001292004.1:c.-376-3992_-376-3984dup NP_001278933.1:n.-376-3992_-376-3984dup
NM_000521.4:c.76_84dup MANE Select NP_000512.2:p.Ala28_Leu29insMetLeuAla
NM_001292004.2:c.-376-3992_-376-3984dup NP_001278933.1:n.-376-3992_-376-3984dup
Search 100 bp 5'
Search 100 bp 3'