Canonical Allele Identifier: CA1555779625

Gene: HEXB

Linked Data

• dbSNP Id: rs1748945006
• gnomAD v4: 5-74689390-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689391_74689393del , CM000667.2:g.74689391_74689393del	GRCh38
NC_000005.9:g.73985216_73985218del , CM000667.1:g.73985216_73985218del	GRCh37
NC_000005.8:g.74020972_74020974del	NCBI36
NG_009770.1:g.9248_9250del
NG_009770.2:g.54369_54371del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.363_365del MANE Select	ENSP00000261416.7:p.Lys121_Thr122delinsAs...
ENST00000261416.11:c.363_365del	ENSP00000261416.7:p.Lys121_Thr122delinsAs...
ENST00000511181.5:c.-313_-311del	ENSP00000426285.1:n.-313_-311del
ENST00000513079.5:n.428_430del
ENST00000515528.1:n.418_420del
NM_000521.3:c.363_365del	NP_000512.1:p.Lys121_Thr122delinsAsn
NM_001292004.1:c.-313_-311del	NP_001278933.1:n.-313_-311del
NM_000521.4:c.363_365del MANE Select	NP_000512.2:p.Lys121_Thr122delinsAsn
NM_001292004.2:c.-313_-311del	NP_001278933.1:n.-313_-311del