Canonical Allele Identifier: CA677546293

Gene: HBD

Linked Data

• dbSNP Id: rs1412616851
• MyVariant Identifiers: chr11:g.5255401del (hg19) ; chr11:g.5234171del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234172del , CM000673.2:g.5234172del	GRCh38
NC_000011.9:g.5255402del , CM000673.1:g.5255402del	GRCh37
NC_000011.8:g.5211978del	NCBI36
NG_000007.3:g.63445del
NG_063112.2:g.14487del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.135del	ENSP00000494708.1:p.Phe46LeufsTer16
ENST00000650601.1:c.135del MANE Select	ENSP00000497529.1:p.Phe46LeufsTer16
ENST00000292901.7:c.135del	ENSP00000292901.3:p.Phe46LeufsTer16
ENST00000380299.3:c.135del	ENSP00000369654.3:p.Phe46LeufsTer16
ENST00000417377.1:c.92+171del	ENSP00000414741.1:n.92+171del
ENST00000429817.1:c.135del	ENSP00000393810.1:p.Phe46LeufsTer16
NM_000519.3:c.135del	NP_000510.1:p.Phe46LeufsTer16
NM_000519.4:c.135del MANE Select	NP_000510.1:p.Phe46LeufsTer16