Canonical Allele Identifier: CA804772582

Gene: PCDHGA1

Linked Data

• dbSNP Id: rs1413713183
• MyVariant Identifiers: chr5:g.140710608_140710612del (hg19) ; chr5:g.141331041_141331045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141331042_141331046del , CM000667.2:g.141331042_141331046del	GRCh38
NC_000005.9:g.140710609_140710613del , CM000667.1:g.140710609_140710613del	GRCh37
NC_000005.8:g.140690793_140690797del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000517417.3:c.358_362del MANE Select	ENSP00000431083.1:p.Glu120ArgfsTer4
ENST00000378105.4:c.358_362del	ENSP00000367345.3:p.Glu120ArgfsTer4
ENST00000517417.2:c.358_362del	ENSP00000431083.1:p.Glu120ArgfsTer4
NM_018912.2:c.358_362del	NP_061735.1:p.Glu120ArgfsTer4
NM_031993.1:c.358_362del	NP_114382.1:p.Glu120ArgfsTer4
NM_018912.3:c.358_362del MANE Select	NP_061735.1:p.Glu120ArgfsTer4
NM_031993.2:c.358_362del	NP_114382.1:p.Glu120ArgfsTer4