Canonical Allele Identifier: CA5839822

Gene: HBB

Linked Data

• ClinVar Variation Id: 495971
• ClinVar RCV Id: RCV000588894 ; RCV001078296
• dbSNP Id: rs34196559
• ExAC: 11:5248257 CTGTT / C
• gnomAD v2: 11-5248257-CTGTT-C
• gnomAD v4: 11-5227027-CTGTT-C
• MyVariant Identifiers: chr11:g.5248258_5248261del (hg19) ; chr11:g.5227028_5227031del (hg38)
• PubMed: PMID:2043469 ; PMID:8338769 ; PMID:15009072 ; PMID:24200214 ; PMID:25849334 ; PMID:26715484

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227030_5227033del , CM000673.2:g.5227030_5227033del	GRCh38
NC_000011.9:g.5248260_5248263del , CM000673.1:g.5248260_5248263del	GRCh37
NC_000011.8:g.5204836_5204839del	NCBI36
NG_000007.3:g.70585_70588del
NG_059281.1:g.5041_5044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-10_-7del	ENSP00000494175.1:n.-10_-7del
ENST00000335295.4:c.-10_-7del MANE Select	ENSP00000333994.3:n.-10_-7del
ENST00000380315.2:c.-10_-7del	ENSP00000369671.2:n.-10_-7del
ENST00000485743.1:n.42_45del
ENST00000633227.1:c.-10_-7del	ENSP00000488004.1:n.-10_-7del
NM_000518.4:c.-10_-7del	NP_000509.1:n.-10_-7del
NM_000518.5:c.-10_-7del MANE Select	NP_000509.1:n.-10_-7del