Canonical Allele Identifier: CA125407

Gene: HBB

Linked Data

• ClinVar Variation Id: 15532
• ClinVar RCV Id: RCV000016797
• dbSNP Id: rs35699671
• MyVariant Identifiers: chr11:g.5248020_5248022del (hg19) ; chr11:g.5226790_5226792del (hg38)
• PubMed: PMID:1911355

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226792_5226794del , CM000673.2:g.5226792_5226794del	GRCh38
NC_000011.9:g.5248022_5248024del , CM000673.1:g.5248022_5248024del	GRCh37
NC_000011.8:g.5204598_5204600del	NCBI36
NG_000007.3:g.70826_70828del
NG_059281.1:g.5282_5284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.102_104del	ENSP00000494175.1:p.Val35del
ENST00000335295.4:c.102_104del MANE Select	ENSP00000333994.3:p.Val35del
ENST00000380315.2:c.102_104del	ENSP00000369671.2:p.Val35del
ENST00000475226.1:n.34_36del
ENST00000485743.1:n.153_155del
ENST00000633227.1:c.86_88del	ENSP00000488004.1:p.Trp29del
NM_000518.4:c.102_104del	NP_000509.1:p.Val35del
NM_000518.5:c.102_104del MANE Select	NP_000509.1:p.Val35del