Canonical Allele Identifier: CA718382330

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• dbSNP Id: rs1257450035
• gnomAD v3: 16-14765051-TG-T
• gnomAD v4: 16-14765051-TG-T
• MyVariant Identifiers: chr16:g.14858909del (hg19) ; chr16:g.14765052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765053del , CM000678.2:g.14765053del	GRCh38
NC_000016.9:g.14858910del , CM000678.1:g.14858910del	GRCh37
NC_000016.8:g.14766411del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529166.6:c.750del (NPIPA2) MANE Select	ENSP00000432029.1:p.Trp250CysfsTer9
ENST00000529166.5:c.750del (NPIPA2)	ENSP00000432029.1:p.Trp250CysfsTer9
ENST00000553201.1:c.693del (NPIPA2)	ENSP00000446882.1:p.Trp231CysfsTer9
ENST00000618714.4:c.63+14178del (NPIPA1)	ENSP00000484994.1:n.63+14178del
ENST00000619019.3:c.902-209del (NPIPA3)	ENSP00000479725.1:n.902-209del
ENST00000621766.4:c.693del (NPIPA3)	ENSP00000483111.1:p.Trp231CysfsTer9
NM_001277324.1:c.693del (NPIPA2)	NP_001264253.1:p.Trp231CysfsTer9
XM_005255489.2:c.693del (NPIPA2)	XP_005255546.1:p.Trp231CysfsTer9
XM_006720917.2:c.*64del (NPIPA2)	XP_006720980.2:n.*64del
XR_933118.1:n.168+1350del
XR_933119.1:n.168+1350del
XR_933120.1:n.168+1350del
XM_011522595.2:c.*196del (NPIPA2)	XP_011520897.1:n.*196del
XM_024450381.1:c.837del (NPIPA2)	XP_024306149.1:p.Trp279CysfsTer9
XM_024450382.1:c.837del (NPIPA2)	XP_024306150.1:p.Trp279CysfsTer9
XM_024450383.1:c.837del (NPIPA2)	XP_024306151.1:p.Trp279CysfsTer9
XM_024450384.1:c.774del (NPIPA2)	XP_024306152.1:p.Trp258CysfsTer9
XM_024450385.1:c.750del (NPIPA2)	XP_024306153.1:p.Trp250CysfsTer9
XM_024450386.1:c.750del (NPIPA2)	XP_024306154.1:p.Trp250CysfsTer9
XM_024450387.1:c.837del (NPIPA2)	XP_024306155.1:p.Trp279CysfsTer9
XM_024450388.1:c.705del (NPIPA2)	XP_024306156.1:p.Trp235CysfsTer9
XR_933118.2:n.168+1350del
XR_933120.2:n.168+1350del
NM_001277324.3:c.693del (NPIPA2)	NP_001264253.1:p.Trp231CysfsTer9
NM_001395485.2:c.750del (NPIPA2) MANE Select	NP_001382414.1:p.Trp250CysfsTer9
NM_001395486.2:c.750del (NPIPA2)	NP_001382415.1:p.Trp250CysfsTer9