Canonical Allele Identifier: CA025014

Gene: PLEKHA4

Linked Data

• ClinVar Variation Id: 161541
• ClinVar RCV Id: RCV000149076
• dbSNP Id: rs193920946
• MyVariant Identifiers: chr19:g.49370850_49370858del (hg19) ; chr19:g.48867593_48867601del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48867594_48867602del , CM000681.2:g.48867594_48867602del	GRCh38
NC_000019.9:g.49370851_49370859del , CM000681.1:g.49370851_49370859del	GRCh37
NC_000019.8:g.54062663_54062671del	NCBI36
NG_054880.1:g.6027_6035del

Transcript Alleles

HGVS	Amino-acid change
ENST00000594100.2:c.20_28del	ENSP00000471274.2:p.Arg7_Ser9del
ENST00000706736.1:n.526_534del
ENST00000706738.1:c.20_28del	ENSP00000516522.1:p.Arg7_Ser9del
ENST00000706740.1:n.294_302del
ENST00000263265.11:c.20_28del MANE Select	ENSP00000263265.5:p.Arg7_Ser9del
ENST00000263265.10:c.20_28del	ENSP00000263265.5:p.Arg7_Ser9del
ENST00000355496.9:c.20_28del	ENSP00000347683.4:p.Arg7_Ser9del
NM_001161354.1:c.20_28del	NP_001154826.1:p.Arg7_Ser9del
NM_020904.2:c.20_28del	NP_065955.2:p.Arg7_Ser9del
XM_005259107.2:c.20_28del	XP_005259164.1:p.Arg7_Ser9del
XM_006723301.2:c.20_28del	XP_006723364.1:p.Arg7_Ser9del
XM_011527157.1:c.20_28del	XP_011525459.1:p.Arg7_Ser9del
XM_011527158.1:c.20_28del	XP_011525460.1:p.Arg7_Ser9del
XM_011527159.1:c.-114_-106del	XP_011525461.1:n.-114_-106del
XM_011527160.1:c.20_28del	XP_011525462.1:p.Arg7_Ser9del
XM_011527158.3:c.20_28del	XP_011525460.1:p.Arg7_Ser9del
NM_020904.3:c.20_28del MANE Select	NP_065955.2:p.Arg7_Ser9del
NM_001161354.2:c.20_28del	NP_001154826.1:p.Arg7_Ser9del