Canonical Allele Identifier: CA2586969841
Gene: PROC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421330_127421336del , CM000664.2:g.127421330_127421336del GRCh38
NC_000002.11:g.128178906_128178912del , CM000664.1:g.128178906_128178912del GRCh37
NC_000002.10:g.127895376_127895382del NCBI36
NG_016323.1:g.7911_7917del , LRG_599:g.7911_7917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.118_124del MANE Select ENSP00000234071.4:p.Arg40ValfsTer19
ENST00000234071.7:c.118_124del ENSP00000234071.3:p.Arg40ValfsTer19
ENST00000409048.1:c.118_124del ENSP00000386679.1:p.Arg40ValfsTer19
ENST00000419985.5:c.83_89del ENSP00000392606.1:p.Pro28ArgfsTer?
ENST00000427769.5:c.118_124del ENSP00000406295.1:p.Arg40ValfsTer19
ENST00000429925.5:c.118_124del ENSP00000412697.1:p.Arg40ValfsTer19
ENST00000431364.1:c.83_89del ENSP00000391220.1:p.Pro28ArgfsTer?
ENST00000442644.5:c.118_124del ENSP00000411241.1:p.Arg40ValfsTer19
ENST00000474030.5:n.201_207del
NM_000312.3:c.118_124del , LRG_599t1:c.118_124del NP_000303.1:p.Arg40ValfsTer19
XM_005263715.3:c.301_307del XP_005263772.1:p.Arg101ValfsTer19
XM_005263716.3:c.181_187del XP_005263773.1:p.Arg61ValfsTer19
XM_005263717.3:c.181_187del XP_005263774.1:p.Arg61ValfsTer19
XM_005263717.4:c.181_187del XP_005263774.1:p.Arg61ValfsTer19
XM_017004505.1:c.361_367del XP_016859994.1:p.Arg121ValfsTer19
XM_024453002.1:c.361_367del XP_024308770.1:p.Arg121ValfsTer19
XM_024453003.1:c.301_307del XP_024308771.1:p.Arg101ValfsTer19
XM_024453004.1:c.301_307del XP_024308772.1:p.Arg101ValfsTer19
XM_024453005.1:c.181_187del XP_024308773.1:p.Arg61ValfsTer19
XM_024453006.1:c.118_124del XP_024308774.1:p.Arg40ValfsTer19
NM_000312.4:c.118_124del MANE Select NP_000303.1:p.Arg40ValfsTer19
NM_001375602.1:c.301_307del NP_001362531.1:p.Arg101ValfsTer19
NM_001375603.1:c.181_187del NP_001362532.1:p.Arg61ValfsTer19
NM_001375604.1:c.181_187del NP_001362533.1:p.Arg61ValfsTer19
NM_001375605.1:c.118_124del NP_001362534.1:p.Arg40ValfsTer19
NM_001375606.1:c.181_187del NP_001362535.1:p.Arg61ValfsTer19
NM_001375607.1:c.202_208del NP_001362536.1:p.Arg68ValfsTer19
NM_001375608.1:c.118_124del NP_001362537.1:p.Arg40ValfsTer19
NM_001375609.1:c.94_100del NP_001362538.1:p.Arg32ValfsTer19
NM_001375610.1:c.112_118del NP_001362539.1:p.Arg38ValfsTer19
NM_001375611.1:c.118_124del NP_001362540.1:p.Arg40ValfsTer19
NM_001375613.1:c.118_124del NP_001362542.1:p.Arg40ValfsTer19