Canonical Allele Identifier: CA278506

Gene: PCCA

Linked Data

• ClinVar Variation Id: 195560
• ClinVar RCV Id: RCV001066663
• dbSNP Id: rs794727334
• gnomAD v2: 13-101101559-GGTAA-G
• gnomAD v3: 13-100449305-GGTAA-G
• gnomAD v4: 13-100449305-GGTAA-G
• MyVariant Identifiers: chr13:g.101101563_101101566del (hg19) ; chr13:g.101101560_101101563del (hg19) ; chr13:g.100449309_100449312del (hg38) ; chr13:g.100449306_100449309del (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100449309_100449312del , CM000675.2:g.100449309_100449312del	GRCh38
NC_000013.10:g.101101563_101101566del , CM000675.1:g.101101563_101101566del	GRCh37
NC_000013.9:g.99899564_99899567del	NCBI36
NG_008768.1:g.365227_365230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1899+4_1899+7del MANE Select	ENSP00000365462.1:n.1899+4_1899+7del
ENST00000636366.1:c.1097+4_1097+7del
ENST00000636475.1:c.1414+4_1414+7del
ENST00000637657.1:c.1559+4_1559+7del
ENST00000647303.1:c.*1383+4_*1383+7del	ENSP00000495663.1:n.*1383+4_*1383+7del
ENST00000376279.7:c.1899+4_1899+7del	ENSP00000365456.3:n.1899+4_1899+7del
ENST00000376285.5:c.1899+4_1899+7del	ENSP00000365462.1:n.1899+4_1899+7del
ENST00000376286.8:c.1821+4_1821+7del	ENSP00000365463.4:n.1821+4_1821+7del
ENST00000413170.1:c.229+4_229+7del
ENST00000458283.5:c.256+4_256+7del
NM_000282.3:c.1899+4_1899+7del	NP_000273.2:n.1899+4_1899+7del
NM_001127692.2:c.1821+4_1821+7del	NP_001121164.1:n.1821+4_1821+7del
NM_001178004.1:c.1899+4_1899+7del	NP_001171475.1:n.1899+4_1899+7del
XM_005254059.2:c.1899+4_1899+7del	XP_005254116.1:n.1899+4_1899+7del
XM_011521093.1:c.1899+4_1899+7del	XP_011519395.1:n.1899+4_1899+7del
XR_931615.1:n.1897+4_1897+7del
NM_001352605.1:c.1845+23578_1845+23581del	NP_001339534.1:n.1845+23578_1845+23581del...
NM_001352606.1:c.1755+4_1755+7del	NP_001339535.1:n.1755+4_1755+7del
NM_001352607.1:c.1821+4_1821+7del	NP_001339536.1:n.1821+4_1821+7del
NM_001352608.1:c.1677+4_1677+7del	NP_001339537.1:n.1677+4_1677+7del
NM_001352609.1:c.1899+4_1899+7del	NP_001339538.1:n.1899+4_1899+7del
NM_001352610.1:c.954+4_954+7del	NP_001339539.1:n.954+4_954+7del
NM_001352611.1:c.900+23578_900+23581del	NP_001339540.1:n.900+23578_900+23581del
NM_001352612.1:c.810+4_810+7del	NP_001339541.1:n.810+4_810+7del
NR_148027.1:n.2089+4_2089+7del
NR_148028.1:n.1986+4_1986+7del
NR_148029.1:n.1908+4_1908+7del
NR_148030.1:n.2089+4_2089+7del
NR_148031.1:n.1902+4_1902+7del
XM_017020605.1:c.1978+4_1978+7del	XP_016876094.1:n.1978+4_1978+7del
XM_017020606.1:c.1900+4_1900+7del	XP_016876095.1:n.1900+4_1900+7del
XM_017020607.1:c.1879+4_1879+7del	XP_016876096.1:n.1879+4_1879+7del
XM_017020609.1:c.1800+4_1800+7del	XP_016876098.1:n.1800+4_1800+7del
XM_017020611.1:c.1978+4_1978+7del	XP_016876100.1:n.1978+4_1978+7del
XM_017020612.1:c.1978+4_1978+7del	XP_016876101.1:n.1978+4_1978+7del
XM_017020613.1:c.1978+4_1978+7del	XP_016876102.1:n.1978+4_1978+7del
XR_001749567.1:n.2079+4_2079+7del
XR_001749568.1:n.2166+4_2166+7del
XR_001749569.1:n.2166+4_2166+7del
XR_001749574.1:n.1935+4_1935+7del
XR_001749576.1:n.1636+4_1636+7del
XR_001749577.1:n.1533+4_1533+7del
NM_000282.4:c.1899+4_1899+7del MANE Select	NP_000273.2:n.1899+4_1899+7del
NM_001352605.2:c.1845+23578_1845+23581del	NP_001339534.1:n.1845+23578_1845+23581del...
NM_001352606.2:c.1755+4_1755+7del	NP_001339535.1:n.1755+4_1755+7del
NM_001352607.2:c.1821+4_1821+7del	NP_001339536.1:n.1821+4_1821+7del
NM_001352608.2:c.1677+4_1677+7del	NP_001339537.1:n.1677+4_1677+7del
NM_001352609.2:c.1899+4_1899+7del	NP_001339538.1:n.1899+4_1899+7del
NM_001352610.2:c.954+4_954+7del	NP_001339539.1:n.954+4_954+7del
NM_001352611.2:c.900+23578_900+23581del	NP_001339540.1:n.900+23578_900+23581del
NM_001352612.2:c.810+4_810+7del	NP_001339541.1:n.810+4_810+7del
NR_148027.2:n.2011+4_2011+7del
NR_148028.2:n.1908+4_1908+7del
NR_148029.2:n.1830+4_1830+7del
NR_148030.2:n.2011+4_2011+7del
NR_148031.2:n.1824+4_1824+7del
NM_001127692.3:c.1821+4_1821+7del	NP_001121164.1:n.1821+4_1821+7del
NM_001178004.2:c.1899+4_1899+7del	NP_001171475.1:n.1899+4_1899+7del