Canonical Allele Identifier: CA1286883412
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs199469469

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127426126_127426128dup , CM000664.2:g.127426126_127426128dup GRCh38
NC_000002.11:g.128183702_128183704dup , CM000664.1:g.128183702_128183704dup GRCh37
NC_000002.10:g.127900172_127900174dup NCBI36
NG_016323.1:g.12707_12709dup , LRG_599:g.12707_12709dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.577_579dup MANE Select ENSP00000234071.4:p.Lys193_Arg194insLys
ENST00000234071.7:c.577_579dup ENSP00000234071.3:p.Lys193_Arg194insLys
ENST00000402125.2:c.121-2231_121-2229dup
ENST00000409048.1:c.679_681dup ENSP00000386679.1:p.Lys227_Arg228insLys
ENST00000442644.5:c.520_522dup ENSP00000411241.1:p.Lys174_Arg175insLys
ENST00000464089.1:n.163_165dup
NM_000312.3:c.577_579dup , LRG_599t1:c.577_579dup NP_000303.1:p.Lys193_Arg194insLys
XM_005263715.3:c.760_762dup XP_005263772.1:p.Lys254_Arg255insLys
XM_005263716.3:c.742_744dup XP_005263773.1:p.Lys248_Arg249insLys
XM_005263717.3:c.640_642dup XP_005263774.1:p.Lys214_Arg215insLys
XM_005263717.4:c.640_642dup XP_005263774.1:p.Lys214_Arg215insLys
XM_017004505.1:c.820_822dup XP_016859994.1:p.Lys274_Arg275insLys
XM_024453002.1:c.922_924dup XP_024308770.1:p.Lys308_Arg309insLys
XM_024453003.1:c.862_864dup XP_024308771.1:p.Lys288_Arg289insLys
XM_024453004.1:c.760_762dup XP_024308772.1:p.Lys254_Arg255insLys
XM_024453005.1:c.742_744dup XP_024308773.1:p.Lys248_Arg249insLys
XM_024453006.1:c.679_681dup XP_024308774.1:p.Lys227_Arg228insLys
XR_923313.2:n.4462_4464dup
NM_000312.4:c.577_579dup MANE Select NP_000303.1:p.Lys193_Arg194insLys
NM_001375602.1:c.760_762dup NP_001362531.1:p.Lys254_Arg255insLys
NM_001375603.1:c.742_744dup NP_001362532.1:p.Lys248_Arg249insLys
NM_001375604.1:c.640_642dup NP_001362533.1:p.Lys214_Arg215insLys
NM_001375605.1:c.679_681dup NP_001362534.1:p.Lys227_Arg228insLys
NM_001375606.1:c.745_747dup NP_001362535.1:p.Lys249_Arg250insLys
NM_001375607.1:c.763_765dup NP_001362536.1:p.Lys255_Arg256insLys
NM_001375608.1:c.520_522dup NP_001362537.1:p.Lys174_Arg175insLys
NM_001375609.1:c.553_555dup NP_001362538.1:p.Lys185_Arg186insLys
NM_001375610.1:c.571_573dup NP_001362539.1:p.Lys191_Arg192insLys
NM_001375611.1:c.577_579dup NP_001362540.1:p.Lys193_Arg194insLys
NM_001375613.1:c.577_579dup NP_001362542.1:p.Lys193_Arg194insLys