Canonical Allele Identifier: CA2843435544
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685435dup , CM000667.2:g.74685435dup GRCh38
NC_000005.9:g.73981260dup , CM000667.1:g.73981260dup GRCh37
NC_000005.8:g.74017016dup NCBI36
NG_009770.1:g.5292dup
NG_009770.2:g.50413dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.175dup MANE Select ENSP00000261416.7:p.Leu59ProfsTer?
ENST00000261416.11:c.175dup ENSP00000261416.7:p.Leu59ProfsTer?
ENST00000511181.5:c.-376-3893dup ENSP00000426285.1:n.-376-3893dup
ENST00000513079.5:n.240dup
ENST00000515528.1:n.230dup
NM_000521.3:c.175dup NP_000512.1:p.Leu59ProfsTer?
NM_001292004.1:c.-376-3893dup NP_001278933.1:n.-376-3893dup
NM_000521.4:c.175dup MANE Select NP_000512.2:p.Leu59ProfsTer?
NM_001292004.2:c.-376-3893dup NP_001278933.1:n.-376-3893dup
Search 100 bp 5'
Search 100 bp 3'