Canonical Allele Identifier: CA5840021

Gene: HBD

Linked Data

• dbSNP Id: rs764123860
• ExAC: 11:5255706 G / GA
• gnomAD v2: 11-5255706-G-GA
• MyVariant Identifiers: chr11:g.5255706_5255707insA (hg19) ; chr11:g.5234476_5234477insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5234479dup , CM000673.2:g.5234479dup	GRCh38
NC_000011.9:g.5255709dup , CM000673.1:g.5255709dup	GRCh37
NC_000011.8:g.5212285dup	NCBI36
NG_000007.3:g.63139dup
NG_063112.2:g.14181dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000643122.1:c.-28-16dup	ENSP00000494708.1:n.-28-16dup
ENST00000650601.1:c.-44dup MANE Select	ENSP00000497529.1:n.-44dup
ENST00000292901.7:c.-44dup	ENSP00000292901.3:n.-44dup
ENST00000380299.3:c.-44dup	ENSP00000369654.3:n.-44dup
ENST00000417377.1:c.-44dup	ENSP00000414741.1:n.-44dup
ENST00000429817.1:c.-44dup	ENSP00000393810.1:n.-44dup
NM_000519.3:c.-44dup	NP_000510.1:n.-44dup
NM_000519.4:c.-44dup MANE Select	NP_000510.1:n.-44dup