Canonical Allele Identifier: CA2114030242

Gene: PCCA

Linked Data

• dbSNP Id: rs2066754337
• gnomAD v4: 13-100309724-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309729_100309730del , CM000675.2:g.100309729_100309730del	GRCh38
NC_000013.10:g.100961983_100961984del , CM000675.1:g.100961983_100961984del	GRCh37
NC_000013.9:g.99759984_99759985del	NCBI36
NG_008768.1:g.225647_225648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1354-104_1354-103del MANE Select	ENSP00000365462.1:n.1354-104_1354-103del
ENST00000636366.1:c.944+36383_944+36384del
ENST00000636420.1:c.1231-104_1231-103del
ENST00000636475.1:c.945-20832_945-20831del
ENST00000637657.1:c.1014-104_1014-103del
ENST00000647303.1:c.*914-20832_*914-20831del	ENSP00000495663.1:n.*914-20832_*914-20831del
ENST00000376279.7:c.1354-104_1354-103del	ENSP00000365456.3:n.1354-104_1354-103del
ENST00000376285.5:c.1354-104_1354-103del	ENSP00000365462.1:n.1354-104_1354-103del
ENST00000376286.8:c.1276-104_1276-103del	ENSP00000365463.4:n.1276-104_1276-103del
ENST00000424527.5:c.31+16475_31+16476del	ENSP00000396050.1:n.31+16475_31+16476del
ENST00000443601.1:c.129-104_129-103del
NM_000282.3:c.1354-104_1354-103del	NP_000273.2:n.1354-104_1354-103del
NM_001127692.2:c.1276-104_1276-103del	NP_001121164.1:n.1276-104_1276-103del
NM_001178004.1:c.1354-104_1354-103del	NP_001171475.1:n.1354-104_1354-103del
XM_005254059.2:c.1354-104_1354-103del	XP_005254116.1:n.1354-104_1354-103del
XM_011521093.1:c.1354-104_1354-103del	XP_011519395.1:n.1354-104_1354-103del
XR_931615.1:n.1455-104_1455-103del
NM_001352605.1:c.1354-104_1354-103del	NP_001339534.1:n.1354-104_1354-103del
NM_001352606.1:c.1210-104_1210-103del	NP_001339535.1:n.1210-104_1210-103del
NM_001352607.1:c.1276-104_1276-103del	NP_001339536.1:n.1276-104_1276-103del
NM_001352608.1:c.1132-104_1132-103del	NP_001339537.1:n.1132-104_1132-103del
NM_001352609.1:c.1354-104_1354-103del	NP_001339538.1:n.1354-104_1354-103del
NM_001352610.1:c.409-104_409-103del	NP_001339539.1:n.409-104_409-103del
NM_001352611.1:c.409-104_409-103del	NP_001339540.1:n.409-104_409-103del
NM_001352612.1:c.265-104_265-103del	NP_001339541.1:n.265-104_265-103del
NR_148027.1:n.1544-104_1544-103del
NR_148028.1:n.1544-104_1544-103del
NR_148029.1:n.1466-104_1466-103del
NR_148030.1:n.1544-104_1544-103del
NR_148031.1:n.1460-104_1460-103del
XM_017020605.1:c.1354-104_1354-103del	XP_016876094.1:n.1354-104_1354-103del
XM_017020606.1:c.1276-104_1276-103del	XP_016876095.1:n.1276-104_1276-103del
XM_017020607.1:c.1255-104_1255-103del	XP_016876096.1:n.1255-104_1255-103del
XM_017020609.1:c.1255-104_1255-103del	XP_016876098.1:n.1255-104_1255-103del
XM_017020611.1:c.1354-104_1354-103del	XP_016876100.1:n.1354-104_1354-103del
XM_017020612.1:c.1354-104_1354-103del	XP_016876101.1:n.1354-104_1354-103del
XM_017020613.1:c.1354-104_1354-103del	XP_016876102.1:n.1354-104_1354-103del
XM_017020615.1:c.1354-104_1354-103del	XP_016876104.1:n.1354-104_1354-103del
XM_017020616.1:c.1354-104_1354-103del	XP_016876105.1:n.1354-104_1354-103del
XR_001749567.1:n.1455-104_1455-103del
XR_001749568.1:n.1455-104_1455-103del
XR_001749569.1:n.1455-104_1455-103del
XR_001749574.1:n.1390-104_1390-103del
XR_001749576.1:n.1167-20832_1167-20831del
XR_001749577.1:n.1167-20832_1167-20831del
NM_000282.4:c.1354-104_1354-103del MANE Select	NP_000273.2:n.1354-104_1354-103del
NM_001352605.2:c.1354-104_1354-103del	NP_001339534.1:n.1354-104_1354-103del
NM_001352606.2:c.1210-104_1210-103del	NP_001339535.1:n.1210-104_1210-103del
NM_001352607.2:c.1276-104_1276-103del	NP_001339536.1:n.1276-104_1276-103del
NM_001352608.2:c.1132-104_1132-103del	NP_001339537.1:n.1132-104_1132-103del
NM_001352609.2:c.1354-104_1354-103del	NP_001339538.1:n.1354-104_1354-103del
NM_001352610.2:c.409-104_409-103del	NP_001339539.1:n.409-104_409-103del
NM_001352611.2:c.409-104_409-103del	NP_001339540.1:n.409-104_409-103del
NM_001352612.2:c.265-104_265-103del	NP_001339541.1:n.265-104_265-103del
NR_148027.2:n.1466-104_1466-103del
NR_148028.2:n.1466-104_1466-103del
NR_148029.2:n.1388-104_1388-103del
NR_148030.2:n.1466-104_1466-103del
NR_148031.2:n.1382-104_1382-103del
NM_001127692.3:c.1276-104_1276-103del	NP_001121164.1:n.1276-104_1276-103del
NM_001178004.2:c.1354-104_1354-103del	NP_001171475.1:n.1354-104_1354-103del