Canonical Allele Identifier: CA1587147996
Gene: PCDHGA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141331040_141331045delinsTTGAAG , CM000667.2:g.141331040_141331045delinsTTGAAG GRCh38
NC_000005.9:g.140710607_140710612delinsTTGAAG , CM000667.1:g.140710607_140710612delinsTTGAAG GRCh37
NC_000005.8:g.140690791_140690796delinsTTGAAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000517417.3:c.356_361delinsTTGAAG MANE Select ENSP00000431083.1:p.Val119=
ENST00000378105.4:c.356_361delinsTTGAAG ENSP00000367345.3:p.Val119=
ENST00000517417.2:c.356_361delinsTTGAAG ENSP00000431083.1:p.Val119=
NM_018912.2:c.356_361delinsTTGAAG NP_061735.1:p.Val119=
NM_031993.1:c.356_361delinsTTGAAG NP_114382.1:p.Val119=
NM_018912.3:c.356_361delinsTTGAAG MANE Select NP_061735.1:p.Val119=
NM_031993.2:c.356_361delinsTTGAAG NP_114382.1:p.Val119=