Canonical Allele Identifier: CA1286881249
Gene: PROC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421883_127421901delinsAGAAAATCTGATTGTTCAG , CM000664.2:g.127421883_127421901delinsAGAAAATCTGATTGTTCAG GRCh38
NC_000002.11:g.128179459_128179477delinsAGAAAATCTGATTGTTCAG , CM000664.1:g.128179459_128179477delinsAGAAAATCTGATTGTTCAG GRCh37
NC_000002.10:g.127895929_127895947delinsAGAAAATCTGATTGTTCAG NCBI36
NG_016323.1:g.8464_8482delinsAGAAAATCTGATTGTTCAG , LRG_599:g.8464_8482delinsAGAAAATCTGATTGTTCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG MANE Select ENSP00000234071.4:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000234071.7:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG ENSP00000234071.3:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000409048.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG ENSP00000386679.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000419985.5:c.*43+434_*43+452delinsAGAAAATCTGATTGTTCAG ENSP00000392606.1:n.*43+434_*43+452delinsAGAAAATCTGATTGTTCAG
ENST00000427769.5:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG ENSP00000406295.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000429925.5:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG ENSP00000412697.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000431364.1:c.*43+434_*43+452delinsAGAAAATCTGATTGTTCAG ENSP00000391220.1:n.*43+434_*43+452delinsAGAAAATCTGATTGTTCAG
ENST00000442644.5:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG ENSP00000411241.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
ENST00000474030.5:n.320+434_320+452delinsAGAAAATCTGATTGTTCAG
NM_000312.3:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG , LRG_599t1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG NP_000303.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
XM_005263715.3:c.420+434_420+452delinsAGAAAATCTGATTGTTCAG XP_005263772.1:n.420+434_420+452delinsAGAAAATCTGATTGTTCAG
XM_005263716.3:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG XP_005263773.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
XM_005263717.3:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG XP_005263774.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
XM_005263717.4:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG XP_005263774.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
XM_017004505.1:c.480+434_480+452delinsAGAAAATCTGATTGTTCAG XP_016859994.1:n.480+434_480+452delinsAGAAAATCTGATTGTTCAG
XM_024453002.1:c.480+434_480+452delinsAGAAAATCTGATTGTTCAG XP_024308770.1:n.480+434_480+452delinsAGAAAATCTGATTGTTCAG
XM_024453003.1:c.420+434_420+452delinsAGAAAATCTGATTGTTCAG XP_024308771.1:n.420+434_420+452delinsAGAAAATCTGATTGTTCAG
XM_024453004.1:c.420+434_420+452delinsAGAAAATCTGATTGTTCAG XP_024308772.1:n.420+434_420+452delinsAGAAAATCTGATTGTTCAG
XM_024453005.1:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG XP_024308773.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
XM_024453006.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG XP_024308774.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
NM_000312.4:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG MANE Select NP_000303.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
NM_001375602.1:c.420+434_420+452delinsAGAAAATCTGATTGTTCAG NP_001362531.1:n.420+434_420+452delinsAGAAAATCTGATTGTTCAG
NM_001375603.1:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG NP_001362532.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
NM_001375604.1:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG NP_001362533.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
NM_001375605.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG NP_001362534.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
NM_001375606.1:c.300+434_300+452delinsAGAAAATCTGATTGTTCAG NP_001362535.1:n.300+434_300+452delinsAGAAAATCTGATTGTTCAG
NM_001375607.1:c.321+434_321+452delinsAGAAAATCTGATTGTTCAG NP_001362536.1:n.321+434_321+452delinsAGAAAATCTGATTGTTCAG
NM_001375608.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG NP_001362537.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
NM_001375609.1:c.213+434_213+452delinsAGAAAATCTGATTGTTCAG NP_001362538.1:n.213+434_213+452delinsAGAAAATCTGATTGTTCAG
NM_001375610.1:c.231+434_231+452delinsAGAAAATCTGATTGTTCAG NP_001362539.1:n.231+434_231+452delinsAGAAAATCTGATTGTTCAG
NM_001375611.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG NP_001362540.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG
NM_001375613.1:c.237+434_237+452delinsAGAAAATCTGATTGTTCAG NP_001362542.1:n.237+434_237+452delinsAGAAAATCTGATTGTTCAG