Canonical Allele Identifier: CA217129974
Gene: HBBP1 HGNC NCBI
HBD HGNC NCBI

Linked Data

dbSNP Id: rs112405934
gnomAD v2: 11-5263717-AT-A
gnomAD v3: 11-5242487-AT-A
gnomAD v4: 11-5242487-AT-A
COSMIC: COSN23029532
MyVariant Identifiers: chr11:g.5263718del (hg19) chr11:g.5242488del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5242497del , CM000673.2:g.5242497del GRCh38
NC_000011.9:g.5263727del , CM000673.1:g.5263727del GRCh37
NC_000011.8:g.5220303del NCBI36
NG_000007.3:g.55128del
NG_063112.2:g.6170del

Transcript Alleles

HGVS Amino-acid change
ENST00000454892.2:n.308-241del (HBBP1)
ENST00000643122.1:c.-29+962del (HBD) ENSP00000494708.1:n.-29+962del
ENST00000433329.1:n.312-241del (HBBP1)
ENST00000454892.1:n.162-241del (HBBP1)
NR_001589.1:n.367-241del (HBBP1)
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