Canonical Allele Identifier: CA974971754

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• gnomAD v3: 16-14765147-CTCAA-C
• gnomAD v4: 16-14765147-CTCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765148_14765151del , CM000678.2:g.14765148_14765151del	GRCh38
NC_000016.9:g.14859005_14859008del , CM000678.1:g.14859005_14859008del	GRCh37
NC_000016.8:g.14766506_14766509del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000529166.6:c.845_848del (NPIPA2) MANE Select	ENSP00000432029.1:p.Leu282ArgfsTer?
ENST00000529166.5:c.845_848del (NPIPA2)	ENSP00000432029.1:p.Leu282ArgfsTer?
ENST00000553201.1:c.788_791del (NPIPA2)	ENSP00000446882.1:p.Leu263ArgfsTer?
ENST00000618714.4:c.63+14273_63+14276del (NPIPA1)	ENSP00000484994.1:n.63+14273_63+14276del
ENST00000619019.3:c.902-114_902-111del (NPIPA3)	ENSP00000479725.1:n.902-114_902-111del
ENST00000621766.4:c.788_791del (NPIPA3)	ENSP00000483111.1:p.Leu263ArgfsTer?
NM_001277324.1:c.788_791del (NPIPA2)	NP_001264253.1:p.Leu263ArgfsTer?
XM_005255489.2:c.788_791del (NPIPA2)	XP_005255546.1:p.Leu263ArgfsTer?
XR_933118.1:n.168+1251_168+1254del
XR_933119.1:n.168+1251_168+1254del
XR_933120.1:n.168+1251_168+1254del
XM_024450381.1:c.932_935del (NPIPA2)	XP_024306149.1:p.Leu311ArgfsTer?
XM_024450382.1:c.932_935del (NPIPA2)	XP_024306150.1:p.Leu311ArgfsTer?
XM_024450383.1:c.932_935del (NPIPA2)	XP_024306151.1:p.Leu311ArgfsTer?
XM_024450384.1:c.869_872del (NPIPA2)	XP_024306152.1:p.Leu290ArgfsTer?
XM_024450385.1:c.845_848del (NPIPA2)	XP_024306153.1:p.Leu282ArgfsTer?
XM_024450386.1:c.845_848del (NPIPA2)	XP_024306154.1:p.Leu282ArgfsTer?
XM_024450387.1:c.932_935del (NPIPA2)	XP_024306155.1:p.Leu311ArgfsTer?
XM_024450388.1:c.800_803del (NPIPA2)	XP_024306156.1:p.Leu267ArgfsTer?
XR_933118.2:n.168+1251_168+1254del
XR_933120.2:n.168+1251_168+1254del
NM_001277324.3:c.788_791del (NPIPA2)	NP_001264253.1:p.Leu263ArgfsTer?
NM_001395485.2:c.845_848del (NPIPA2) MANE Select	NP_001382414.1:p.Leu282ArgfsTer?
NM_001395486.2:c.845_848del (NPIPA2)	NP_001382415.1:p.Leu282ArgfsTer?