Canonical Allele Identifier: CA55345232
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs199469477

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127423120_127423123del , CM000664.2:g.127423120_127423123del GRCh38
NC_000002.11:g.128180696_128180699del , CM000664.1:g.128180696_128180699del GRCh37
NC_000002.10:g.127897166_127897169del NCBI36
NG_016323.1:g.9701_9704del , LRG_599:g.9701_9704del

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.349_352del MANE Select ENSP00000234071.4:p.Phe118AlafsTer17
ENST00000234071.7:c.349_352del ENSP00000234071.3:p.Phe118AlafsTer17
ENST00000409048.1:c.349_352del ENSP00000386679.1:p.Phe118AlafsTer?
ENST00000419985.5:c.*155_*158del ENSP00000392606.1:n.*155_*158del
ENST00000429925.5:c.349_352del ENSP00000412697.1:p.Phe118AlafsTer?
ENST00000431364.1:c.*155_*158del ENSP00000391220.1:n.*155_*158del
ENST00000442644.5:c.349_352del ENSP00000411241.1:p.Phe118AlafsTer?
NM_000312.3:c.349_352del , LRG_599t1:c.349_352del NP_000303.1:p.Phe118AlafsTer17
XM_005263715.3:c.532_535del XP_005263772.1:p.Phe179AlafsTer17
XM_005263716.3:c.412_415del XP_005263773.1:p.Phe139AlafsTer?
XM_005263717.3:c.412_415del XP_005263774.1:p.Phe139AlafsTer17
XM_005263717.4:c.412_415del XP_005263774.1:p.Phe139AlafsTer17
XM_017004505.1:c.592_595del XP_016859994.1:p.Phe199AlafsTer17
XM_024453002.1:c.592_595del XP_024308770.1:p.Phe199AlafsTer?
XM_024453003.1:c.532_535del XP_024308771.1:p.Phe179AlafsTer?
XM_024453004.1:c.532_535del XP_024308772.1:p.Phe179AlafsTer17
XM_024453005.1:c.412_415del XP_024308773.1:p.Phe139AlafsTer?
XM_024453006.1:c.349_352del XP_024308774.1:p.Phe118AlafsTer?
NM_000312.4:c.349_352del MANE Select NP_000303.1:p.Phe118AlafsTer17
NM_001375602.1:c.532_535del NP_001362531.1:p.Phe179AlafsTer17
NM_001375603.1:c.412_415del NP_001362532.1:p.Phe139AlafsTer?
NM_001375604.1:c.412_415del NP_001362533.1:p.Phe139AlafsTer17
NM_001375605.1:c.349_352del NP_001362534.1:p.Phe118AlafsTer?
NM_001375606.1:c.504_507del NP_001362535.1:p.Ala169GlnfsTer17
NM_001375607.1:c.433_436del NP_001362536.1:p.Phe146AlafsTer?
NM_001375608.1:c.349_352del NP_001362537.1:p.Phe118AlafsTer?
NM_001375609.1:c.325_328del NP_001362538.1:p.Phe110AlafsTer17
NM_001375610.1:c.343_346del NP_001362539.1:p.Phe116AlafsTer17
NM_001375611.1:c.349_352del NP_001362540.1:p.Phe118AlafsTer17
NM_001375613.1:c.349_352del NP_001362542.1:p.Phe118AlafsTer17