Canonical Allele Identifier: CA2114030233

Gene: PCCA

Linked Data

• dbSNP Id: rs2066752045
• gnomAD v4: 13-100309702-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309703_100309704del , CM000675.2:g.100309703_100309704del	GRCh38
NC_000013.10:g.100961957_100961958del , CM000675.1:g.100961957_100961958del	GRCh37
NC_000013.9:g.99759958_99759959del	NCBI36
NG_008768.1:g.225621_225622del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1354-130_1354-129del MANE Select	ENSP00000365462.1:n.1354-130_1354-129del
ENST00000636366.1:c.944+36357_944+36358del
ENST00000636420.1:c.1231-130_1231-129del
ENST00000636475.1:c.945-20858_945-20857del
ENST00000637657.1:c.1014-130_1014-129del
ENST00000647303.1:c.*914-20858_*914-20857del	ENSP00000495663.1:n.*914-20858_*914-20857del
ENST00000376279.7:c.1354-130_1354-129del	ENSP00000365456.3:n.1354-130_1354-129del
ENST00000376285.5:c.1354-130_1354-129del	ENSP00000365462.1:n.1354-130_1354-129del
ENST00000376286.8:c.1276-130_1276-129del	ENSP00000365463.4:n.1276-130_1276-129del
ENST00000424527.5:c.31+16449_31+16450del	ENSP00000396050.1:n.31+16449_31+16450del
ENST00000443601.1:c.129-130_129-129del
NM_000282.3:c.1354-130_1354-129del	NP_000273.2:n.1354-130_1354-129del
NM_001127692.2:c.1276-130_1276-129del	NP_001121164.1:n.1276-130_1276-129del
NM_001178004.1:c.1354-130_1354-129del	NP_001171475.1:n.1354-130_1354-129del
XM_005254059.2:c.1354-130_1354-129del	XP_005254116.1:n.1354-130_1354-129del
XM_011521093.1:c.1354-130_1354-129del	XP_011519395.1:n.1354-130_1354-129del
XR_931615.1:n.1455-130_1455-129del
NM_001352605.1:c.1354-130_1354-129del	NP_001339534.1:n.1354-130_1354-129del
NM_001352606.1:c.1210-130_1210-129del	NP_001339535.1:n.1210-130_1210-129del
NM_001352607.1:c.1276-130_1276-129del	NP_001339536.1:n.1276-130_1276-129del
NM_001352608.1:c.1132-130_1132-129del	NP_001339537.1:n.1132-130_1132-129del
NM_001352609.1:c.1354-130_1354-129del	NP_001339538.1:n.1354-130_1354-129del
NM_001352610.1:c.409-130_409-129del	NP_001339539.1:n.409-130_409-129del
NM_001352611.1:c.409-130_409-129del	NP_001339540.1:n.409-130_409-129del
NM_001352612.1:c.265-130_265-129del	NP_001339541.1:n.265-130_265-129del
NR_148027.1:n.1544-130_1544-129del
NR_148028.1:n.1544-130_1544-129del
NR_148029.1:n.1466-130_1466-129del
NR_148030.1:n.1544-130_1544-129del
NR_148031.1:n.1460-130_1460-129del
XM_017020605.1:c.1354-130_1354-129del	XP_016876094.1:n.1354-130_1354-129del
XM_017020606.1:c.1276-130_1276-129del	XP_016876095.1:n.1276-130_1276-129del
XM_017020607.1:c.1255-130_1255-129del	XP_016876096.1:n.1255-130_1255-129del
XM_017020609.1:c.1255-130_1255-129del	XP_016876098.1:n.1255-130_1255-129del
XM_017020611.1:c.1354-130_1354-129del	XP_016876100.1:n.1354-130_1354-129del
XM_017020612.1:c.1354-130_1354-129del	XP_016876101.1:n.1354-130_1354-129del
XM_017020613.1:c.1354-130_1354-129del	XP_016876102.1:n.1354-130_1354-129del
XM_017020615.1:c.1354-130_1354-129del	XP_016876104.1:n.1354-130_1354-129del
XM_017020616.1:c.1354-130_1354-129del	XP_016876105.1:n.1354-130_1354-129del
XR_001749567.1:n.1455-130_1455-129del
XR_001749568.1:n.1455-130_1455-129del
XR_001749569.1:n.1455-130_1455-129del
XR_001749574.1:n.1390-130_1390-129del
XR_001749576.1:n.1167-20858_1167-20857del
XR_001749577.1:n.1167-20858_1167-20857del
NM_000282.4:c.1354-130_1354-129del MANE Select	NP_000273.2:n.1354-130_1354-129del
NM_001352605.2:c.1354-130_1354-129del	NP_001339534.1:n.1354-130_1354-129del
NM_001352606.2:c.1210-130_1210-129del	NP_001339535.1:n.1210-130_1210-129del
NM_001352607.2:c.1276-130_1276-129del	NP_001339536.1:n.1276-130_1276-129del
NM_001352608.2:c.1132-130_1132-129del	NP_001339537.1:n.1132-130_1132-129del
NM_001352609.2:c.1354-130_1354-129del	NP_001339538.1:n.1354-130_1354-129del
NM_001352610.2:c.409-130_409-129del	NP_001339539.1:n.409-130_409-129del
NM_001352611.2:c.409-130_409-129del	NP_001339540.1:n.409-130_409-129del
NM_001352612.2:c.265-130_265-129del	NP_001339541.1:n.265-130_265-129del
NR_148027.2:n.1466-130_1466-129del
NR_148028.2:n.1466-130_1466-129del
NR_148029.2:n.1388-130_1388-129del
NR_148030.2:n.1466-130_1466-129del
NR_148031.2:n.1382-130_1382-129del
NM_001127692.3:c.1276-130_1276-129del	NP_001121164.1:n.1276-130_1276-129del
NM_001178004.2:c.1354-130_1354-129del	NP_001171475.1:n.1354-130_1354-129del