Canonical Allele Identifier: CA2114030229

Gene: PCCA

Linked Data

• dbSNP Id: rs2066751614

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100309704_100309708del , CM000675.2:g.100309704_100309708del	GRCh38
NC_000013.10:g.100961958_100961962del , CM000675.1:g.100961958_100961962del	GRCh37
NC_000013.9:g.99759959_99759963del	NCBI36
NG_008768.1:g.225622_225626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.1354-129_1354-125del MANE Select	ENSP00000365462.1:n.1354-129_1354-125del
ENST00000636366.1:c.944+36358_944+36362del
ENST00000636420.1:c.1231-129_1231-125del
ENST00000636475.1:c.945-20857_945-20853del
ENST00000637657.1:c.1014-129_1014-125del
ENST00000647303.1:c.*914-20857_*914-20853del	ENSP00000495663.1:n.*914-20857_*914-20853del
ENST00000376279.7:c.1354-129_1354-125del	ENSP00000365456.3:n.1354-129_1354-125del
ENST00000376285.5:c.1354-129_1354-125del	ENSP00000365462.1:n.1354-129_1354-125del
ENST00000376286.8:c.1276-129_1276-125del	ENSP00000365463.4:n.1276-129_1276-125del
ENST00000424527.5:c.31+16450_31+16454del	ENSP00000396050.1:n.31+16450_31+16454del
ENST00000443601.1:c.129-129_129-125del
NM_000282.3:c.1354-129_1354-125del	NP_000273.2:n.1354-129_1354-125del
NM_001127692.2:c.1276-129_1276-125del	NP_001121164.1:n.1276-129_1276-125del
NM_001178004.1:c.1354-129_1354-125del	NP_001171475.1:n.1354-129_1354-125del
XM_005254059.2:c.1354-129_1354-125del	XP_005254116.1:n.1354-129_1354-125del
XM_011521093.1:c.1354-129_1354-125del	XP_011519395.1:n.1354-129_1354-125del
XR_931615.1:n.1455-129_1455-125del
NM_001352605.1:c.1354-129_1354-125del	NP_001339534.1:n.1354-129_1354-125del
NM_001352606.1:c.1210-129_1210-125del	NP_001339535.1:n.1210-129_1210-125del
NM_001352607.1:c.1276-129_1276-125del	NP_001339536.1:n.1276-129_1276-125del
NM_001352608.1:c.1132-129_1132-125del	NP_001339537.1:n.1132-129_1132-125del
NM_001352609.1:c.1354-129_1354-125del	NP_001339538.1:n.1354-129_1354-125del
NM_001352610.1:c.409-129_409-125del	NP_001339539.1:n.409-129_409-125del
NM_001352611.1:c.409-129_409-125del	NP_001339540.1:n.409-129_409-125del
NM_001352612.1:c.265-129_265-125del	NP_001339541.1:n.265-129_265-125del
NR_148027.1:n.1544-129_1544-125del
NR_148028.1:n.1544-129_1544-125del
NR_148029.1:n.1466-129_1466-125del
NR_148030.1:n.1544-129_1544-125del
NR_148031.1:n.1460-129_1460-125del
XM_017020605.1:c.1354-129_1354-125del	XP_016876094.1:n.1354-129_1354-125del
XM_017020606.1:c.1276-129_1276-125del	XP_016876095.1:n.1276-129_1276-125del
XM_017020607.1:c.1255-129_1255-125del	XP_016876096.1:n.1255-129_1255-125del
XM_017020609.1:c.1255-129_1255-125del	XP_016876098.1:n.1255-129_1255-125del
XM_017020611.1:c.1354-129_1354-125del	XP_016876100.1:n.1354-129_1354-125del
XM_017020612.1:c.1354-129_1354-125del	XP_016876101.1:n.1354-129_1354-125del
XM_017020613.1:c.1354-129_1354-125del	XP_016876102.1:n.1354-129_1354-125del
XM_017020615.1:c.1354-129_1354-125del	XP_016876104.1:n.1354-129_1354-125del
XM_017020616.1:c.1354-129_1354-125del	XP_016876105.1:n.1354-129_1354-125del
XR_001749567.1:n.1455-129_1455-125del
XR_001749568.1:n.1455-129_1455-125del
XR_001749569.1:n.1455-129_1455-125del
XR_001749574.1:n.1390-129_1390-125del
XR_001749576.1:n.1167-20857_1167-20853del
XR_001749577.1:n.1167-20857_1167-20853del
NM_000282.4:c.1354-129_1354-125del MANE Select	NP_000273.2:n.1354-129_1354-125del
NM_001352605.2:c.1354-129_1354-125del	NP_001339534.1:n.1354-129_1354-125del
NM_001352606.2:c.1210-129_1210-125del	NP_001339535.1:n.1210-129_1210-125del
NM_001352607.2:c.1276-129_1276-125del	NP_001339536.1:n.1276-129_1276-125del
NM_001352608.2:c.1132-129_1132-125del	NP_001339537.1:n.1132-129_1132-125del
NM_001352609.2:c.1354-129_1354-125del	NP_001339538.1:n.1354-129_1354-125del
NM_001352610.2:c.409-129_409-125del	NP_001339539.1:n.409-129_409-125del
NM_001352611.2:c.409-129_409-125del	NP_001339540.1:n.409-129_409-125del
NM_001352612.2:c.265-129_265-125del	NP_001339541.1:n.265-129_265-125del
NR_148027.2:n.1466-129_1466-125del
NR_148028.2:n.1466-129_1466-125del
NR_148029.2:n.1388-129_1388-125del
NR_148030.2:n.1466-129_1466-125del
NR_148031.2:n.1382-129_1382-125del
NM_001127692.3:c.1276-129_1276-125del	NP_001121164.1:n.1276-129_1276-125del
NM_001178004.2:c.1354-129_1354-125del	NP_001171475.1:n.1354-129_1354-125del