Canonical Allele Identifier: CA1949575260
Gene: HBBP1 HGNC NCBI
HBD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5242485T= , CM000673.2:g.5242485T= GRCh38
NC_000011.9:g.5263715T= , CM000673.1:g.5263715T= GRCh37
NC_000011.8:g.5220291T= NCBI36
NG_000007.3:g.55131A=
NG_063112.2:g.6173A=

Transcript Alleles

HGVS Amino-acid change
ENST00000454892.2:n.308-238A= (HBBP1)
ENST00000643122.1:c.-29+965A= (HBD) ENSP00000494708.1:n.-29+965A=
ENST00000433329.1:n.312-238A= (HBBP1)
ENST00000454892.1:n.162-238A= (HBBP1)
NR_001589.1:n.367-238A= (HBBP1)
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