Canonical Allele Identifier: CA2574735635
Gene: HBD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5233896del , CM000673.2:g.5233896del GRCh38
NC_000011.9:g.5255126del , CM000673.1:g.5255126del GRCh37
NC_000011.8:g.5211702del NCBI36
NG_000007.3:g.63723del
NG_063112.2:g.14765del

Transcript Alleles

HGVS Amino-acid change
ENST00000643122.1:c.315+98del ENSP00000494708.1:n.315+98del
ENST00000650601.1:c.315+98del MANE Select ENSP00000497529.1:n.315+98del
ENST00000292901.7:c.315+98del ENSP00000292901.3:n.315+98del
ENST00000380299.3:c.315+98del ENSP00000369654.3:n.315+98del
ENST00000417377.1:c.92+449del ENSP00000414741.1:n.92+449del
NM_000519.3:c.315+98del NP_000510.1:n.315+98del
NM_000519.4:c.315+98del MANE Select NP_000510.1:n.315+98del