Canonical Allele Identifier: CA1949575285
Gene: HBBP1 HGNC NCBI
HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5242490T= , CM000673.2:g.5242490T= GRCh38
NC_000011.9:g.5263720T= , CM000673.1:g.5263720T= GRCh37
NC_000011.8:g.5220296T= NCBI36
NG_000007.3:g.55126A=
NG_063112.2:g.6168A=

Transcript Alleles

HGVS Amino-acid change
ENST00000454892.2:n.308-243A= (HBBP1)
ENST00000643122.1:c.-29+960A= (HBD) ENSP00000494708.1:n.-29+960A=
ENST00000433329.1:n.312-243A= (HBBP1)
ENST00000454892.1:n.162-243A= (HBBP1)
NR_001589.1:n.367-243A= (HBBP1)
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