Canonical Allele Identifier: CA1859397

Gene: PROC

Linked Data

• dbSNP Id: rs776940957
• ExAC: 2:128183727 C / CAGAAGACCA
• gnomAD v2: 2-128183727-C-CAGAAGACCA
• gnomAD v3: 2-127426151-C-CAGAAGACCA
• gnomAD v4: 2-127426151-C-CAGAAGACCA
• MyVariant Identifiers: chr2:g.128183727_128183728insAGAAGACCA (hg19) ; chr2:g.127426151_127426152insAGAAGACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426163_127426171dup , CM000664.2:g.127426163_127426171dup	GRCh38
NC_000002.11:g.128183739_128183747dup , CM000664.1:g.128183739_128183747dup	GRCh37
NC_000002.10:g.127900209_127900217dup	NCBI36
NG_016323.1:g.12744_12752dup , LRG_599:g.12744_12752dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.614_622dup MANE Select	ENSP00000234071.4:p.Gln207_Val208insGluAspGln
ENST00000234071.7:c.614_622dup	ENSP00000234071.3:p.Gln207_Val208insGluAspGln
ENST00000402125.2:c.121-2194_121-2186dup
ENST00000409048.1:c.716_724dup	ENSP00000386679.1:p.Gln241_Val242insGluAspGln
ENST00000464089.1:n.200_208dup
NM_000312.3:c.614_622dup , LRG_599t1:c.614_622dup	NP_000303.1:p.Gln207_Val208insGluAspGln
XM_005263715.3:c.797_805dup	XP_005263772.1:p.Gln268_Val269insGluAspGln
XM_005263716.3:c.779_787dup	XP_005263773.1:p.Gln262_Val263insGluAspGln
XM_005263717.3:c.677_685dup	XP_005263774.1:p.Gln228_Val229insGluAspGln
XM_005263717.4:c.677_685dup	XP_005263774.1:p.Gln228_Val229insGluAspGln
XM_017004505.1:c.857_865dup	XP_016859994.1:p.Gln288_Val289insGluAspGln
XM_024453002.1:c.959_967dup	XP_024308770.1:p.Gln322_Val323insGluAspGln
XM_024453003.1:c.899_907dup	XP_024308771.1:p.Gln302_Val303insGluAspGln
XM_024453004.1:c.797_805dup	XP_024308772.1:p.Gln268_Val269insGluAspGln
XM_024453005.1:c.779_787dup	XP_024308773.1:p.Gln262_Val263insGluAspGln
XM_024453006.1:c.716_724dup	XP_024308774.1:p.Gln241_Val242insGluAspGln
XR_923313.2:n.4425_4433dup
NM_000312.4:c.614_622dup MANE Select	NP_000303.1:p.Gln207_Val208insGluAspGln
NM_001375602.1:c.797_805dup	NP_001362531.1:p.Gln268_Val269insGluAspGln
NM_001375603.1:c.779_787dup	NP_001362532.1:p.Gln262_Val263insGluAspGln
NM_001375604.1:c.677_685dup	NP_001362533.1:p.Gln228_Val229insGluAspGln
NM_001375605.1:c.716_724dup	NP_001362534.1:p.Gln241_Val242insGluAspGln
NM_001375606.1:c.782_790dup	NP_001362535.1:p.Gln263_Val264insGluAspGln
NM_001375607.1:c.800_808dup	NP_001362536.1:p.Gln269_Val270insGluAspGln
NM_001375608.1:c.557_565dup	NP_001362537.1:p.Gln188_Val189insGluAspGln
NM_001375609.1:c.590_598dup	NP_001362538.1:p.Gln199_Val200insGluAspGln
NM_001375610.1:c.608_616dup	NP_001362539.1:p.Gln205_Val206insGluAspGln
NM_001375611.1:c.614_622dup	NP_001362540.1:p.Gln207_Val208insGluAspGln
NM_001375613.1:c.614_622dup	NP_001362542.1:p.Gln207_Val208insGluAspGln