Canonical Allele Identifier: CA1859388

Gene: PROC

Linked Data

• ClinVar Variation Id: 225448
• ClinVar RCV Id: RCV000288890
• dbSNP Id: rs199469469
• ExAC: 2:128183696 GAGA / G
• gnomAD v2: 2-128183696-GAGA-G
• gnomAD v3: 2-127426120-GAGA-G
• gnomAD v4: 2-127426120-GAGA-G
• MyVariant Identifiers: chr2:g.128183702_128183704del (hg19) ; chr2:g.128183697_128183699del (hg19) ; chr2:g.127426126_127426128del (hg38) ; chr2:g.127426121_127426123del (hg38)
• PubMed: PMID:9840027 ; PMID:10805275 ; PMID:15978566 ; PMID:17649706 ; PMID:18954896 ; PMID:19822351 ; PMID:22817391 ; PMID:23332921 ; PMID:24028705 ; PMID:24162787 ; PMID:26250584

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426126_127426128del , CM000664.2:g.127426126_127426128del	GRCh38
NC_000002.11:g.128183702_128183704del , CM000664.1:g.128183702_128183704del	GRCh37
NC_000002.10:g.127900172_127900174del	NCBI36
NG_016323.1:g.12707_12709del , LRG_599:g.12707_12709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.577_579del MANE Select	ENSP00000234071.4:p.Lys193del
ENST00000234071.7:c.577_579del	ENSP00000234071.3:p.Lys193del
ENST00000402125.2:c.121-2231_121-2229del
ENST00000409048.1:c.679_681del	ENSP00000386679.1:p.Lys227del
ENST00000442644.5:c.520_522del	ENSP00000411241.1:p.Lys174del
ENST00000464089.1:n.163_165del
NM_000312.3:c.577_579del , LRG_599t1:c.577_579del	NP_000303.1:p.Lys193del
XM_005263715.3:c.760_762del	XP_005263772.1:p.Lys254del
XM_005263716.3:c.742_744del	XP_005263773.1:p.Lys248del
XM_005263717.3:c.640_642del	XP_005263774.1:p.Lys214del
XM_005263717.4:c.640_642del	XP_005263774.1:p.Lys214del
XM_017004505.1:c.820_822del	XP_016859994.1:p.Lys274del
XM_024453002.1:c.922_924del	XP_024308770.1:p.Lys308del
XM_024453003.1:c.862_864del	XP_024308771.1:p.Lys288del
XM_024453004.1:c.760_762del	XP_024308772.1:p.Lys254del
XM_024453005.1:c.742_744del	XP_024308773.1:p.Lys248del
XM_024453006.1:c.679_681del	XP_024308774.1:p.Lys227del
XR_923313.2:n.4462_4464del
NM_000312.4:c.577_579del MANE Select	NP_000303.1:p.Lys193del
NM_001375602.1:c.760_762del	NP_001362531.1:p.Lys254del
NM_001375603.1:c.742_744del	NP_001362532.1:p.Lys248del
NM_001375604.1:c.640_642del	NP_001362533.1:p.Lys214del
NM_001375605.1:c.679_681del	NP_001362534.1:p.Lys227del
NM_001375606.1:c.745_747del	NP_001362535.1:p.Lys249del
NM_001375607.1:c.763_765del	NP_001362536.1:p.Lys255del
NM_001375608.1:c.520_522del	NP_001362537.1:p.Lys174del
NM_001375609.1:c.553_555del	NP_001362538.1:p.Lys185del
NM_001375610.1:c.571_573del	NP_001362539.1:p.Lys191del
NM_001375611.1:c.577_579del	NP_001362540.1:p.Lys193del
NM_001375613.1:c.577_579del	NP_001362542.1:p.Lys193del