Canonical Allele Identifier: CA278498

Gene: PCCA

Linked Data

• ClinVar Variation Id: 193576
• ClinVar RCV Id: RCV000173671 ; RCV000724430
• dbSNP Id: rs794726976
• gnomAD v3: 13-100262786-ACTAAT-A
• gnomAD v4: 13-100262786-ACTAAT-A
• MyVariant Identifiers: chr13:g.100915041_100915045del (hg19) ; chr13:g.100262787_100262791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100262787_100262791del , CM000675.2:g.100262787_100262791del	GRCh38
NC_000013.10:g.100915041_100915045del , CM000675.1:g.100915041_100915045del	GRCh37
NC_000013.9:g.99713042_99713046del	NCBI36
NG_008768.1:g.178705_178709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.775_779del MANE Select	ENSP00000365462.1:p.Leu259ArgfsTer5
ENST00000636366.1:c.654_658del
ENST00000636420.1:c.654_658del
ENST00000636475.1:c.654_658del
ENST00000637657.1:c.654_658del
ENST00000647303.1:c.*623_*627del	ENSP00000495663.1:n.*623_*627del
ENST00000376279.7:c.775_779del	ENSP00000365456.3:p.Leu259ArgfsTer5
ENST00000376285.5:c.775_779del	ENSP00000365462.1:p.Leu259ArgfsTer5
ENST00000376286.8:c.697_701del	ENSP00000365463.4:p.Leu233ArgfsTer5
NM_000282.3:c.775_779del	NP_000273.2:p.Leu259ArgfsTer5
NM_001127692.2:c.697_701del	NP_001121164.1:p.Leu233ArgfsTer5
NM_001178004.1:c.775_779del	NP_001171475.1:p.Leu259ArgfsTer5
XM_005254059.2:c.775_779del	XP_005254116.1:p.Leu259ArgfsTer5
XM_011521093.1:c.775_779del	XP_011519395.1:p.Leu259ArgfsTer5
XR_931615.1:n.876_880del
XR_931616.1:n.876_880del
NM_001352605.1:c.775_779del	NP_001339534.1:p.Leu259ArgfsTer5
NM_001352606.1:c.775_779del	NP_001339535.1:p.Leu259ArgfsTer5
NM_001352607.1:c.697_701del	NP_001339536.1:p.Leu233ArgfsTer5
NM_001352608.1:c.697_701del	NP_001339537.1:p.Leu233ArgfsTer5
NM_001352609.1:c.775_779del	NP_001339538.1:p.Leu259ArgfsTer5
NM_001352610.1:c.-171_-167del	NP_001339539.1:n.-171_-167del
NM_001352611.1:c.-171_-167del	NP_001339540.1:n.-171_-167del
NM_001352612.1:c.-171_-167del	NP_001339541.1:n.-171_-167del
NR_148027.1:n.881_885del
NR_148028.1:n.881_885del
NR_148029.1:n.803_807del
NR_148030.1:n.881_885del
NR_148031.1:n.881_885del
XM_017020605.1:c.775_779del	XP_016876094.1:p.Leu259ArgfsTer5
XM_017020606.1:c.697_701del	XP_016876095.1:p.Leu233ArgfsTer5
XM_017020607.1:c.676_680del	XP_016876096.1:p.Leu226ArgfsTer5
XM_017020609.1:c.676_680del	XP_016876098.1:p.Leu226ArgfsTer5
XM_017020611.1:c.775_779del	XP_016876100.1:p.Leu259ArgfsTer5
XM_017020612.1:c.775_779del	XP_016876101.1:p.Leu259ArgfsTer5
XM_017020613.1:c.775_779del	XP_016876102.1:p.Leu259ArgfsTer5
XM_017020615.1:c.775_779del	XP_016876104.1:p.Leu259ArgfsTer5
XM_017020616.1:c.775_779del	XP_016876105.1:p.Leu259ArgfsTer5
XR_001749567.1:n.876_880del
XR_001749568.1:n.876_880del
XR_001749569.1:n.876_880del
XR_001749574.1:n.727_731del
XR_001749576.1:n.876_880del
XR_001749577.1:n.876_880del
NM_000282.4:c.775_779del MANE Select	NP_000273.2:p.Leu259ArgfsTer5
NM_001352605.2:c.775_779del	NP_001339534.1:p.Leu259ArgfsTer5
NM_001352606.2:c.775_779del	NP_001339535.1:p.Leu259ArgfsTer5
NM_001352607.2:c.697_701del	NP_001339536.1:p.Leu233ArgfsTer5
NM_001352608.2:c.697_701del	NP_001339537.1:p.Leu233ArgfsTer5
NM_001352609.2:c.775_779del	NP_001339538.1:p.Leu259ArgfsTer5
NM_001352610.2:c.-171_-167del	NP_001339539.1:n.-171_-167del
NM_001352611.2:c.-171_-167del	NP_001339540.1:n.-171_-167del
NM_001352612.2:c.-171_-167del	NP_001339541.1:n.-171_-167del
NR_148027.2:n.803_807del
NR_148028.2:n.803_807del
NR_148029.2:n.725_729del
NR_148030.2:n.803_807del
NR_148031.2:n.803_807del
NM_001127692.3:c.697_701del	NP_001121164.1:p.Leu233ArgfsTer5
NM_001178004.2:c.775_779del	NP_001171475.1:p.Leu259ArgfsTer5