Canonical Allele Identifier: CA2830539758
Gene: PCDHB1 HGNC NCBI
PCDHB1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141053464_141053465del , CM000667.2:g.141053464_141053465del GRCh38
NC_000005.9:g.140433049_140433050del , CM000667.1:g.140433049_140433050del GRCh37
NC_000005.8:g.140413233_140413234del NCBI36
NG_050759.1:g.7089_7090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306549.6:c.1994_1995del (PCDHB1) MANE Select ENSP00000307234.4:p.Asp665GlyfsTer17
ENST00000306549.5:c.1994_1995del (PCDHB1) ENSP00000307234.3:p.Asp665GlyfsTer17
NM_013340.3:c.1994_1995del (PCDHB1) NP_037472.2:p.Asp665GlyfsTer17
NR_105056.2:n.357-2295_357-2294del (PCDHB1-AS1)
NM_013340.4:c.1994_1995del (PCDHB1) MANE Select NP_037472.2:p.Asp665GlyfsTer17