Canonical Allele Identifier: CA2660996418

Gene: PROC

Linked Data

• gnomAD v4: 2-127423188-GATGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423189_127423192del , CM000664.2:g.127423189_127423192del	GRCh38
NC_000002.11:g.128180765_128180768del , CM000664.1:g.128180765_128180768del	GRCh37
NC_000002.10:g.127897235_127897238del	NCBI36
NG_016323.1:g.9770_9773del , LRG_599:g.9770_9773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+18_400+21del MANE Select	ENSP00000234071.4:n.400+18_400+21del
ENST00000234071.7:c.400+18_400+21del	ENSP00000234071.3:n.400+18_400+21del
ENST00000409048.1:c.418_421del	ENSP00000386679.1:p.Met140TrpfsTer29
ENST00000419985.5:c.*224_*227del	ENSP00000392606.1:n.*224_*227del
ENST00000442644.5:c.400+18_400+21del	ENSP00000411241.1:n.400+18_400+21del
NM_000312.3:c.400+18_400+21del , LRG_599t1:c.400+18_400+21del	NP_000303.1:n.400+18_400+21del
XM_005263715.3:c.583+18_583+21del	XP_005263772.1:n.583+18_583+21del
XM_005263716.3:c.481_484del	XP_005263773.1:p.Met161TrpfsTer29
XM_005263717.3:c.463+18_463+21del	XP_005263774.1:n.463+18_463+21del
XM_005263717.4:c.463+18_463+21del	XP_005263774.1:n.463+18_463+21del
XM_017004505.1:c.643+18_643+21del	XP_016859994.1:n.643+18_643+21del
XM_024453002.1:c.661_664del	XP_024308770.1:p.Met221TrpfsTer29
XM_024453003.1:c.601_604del	XP_024308771.1:p.Met201TrpfsTer29
XM_024453004.1:c.583+18_583+21del	XP_024308772.1:n.583+18_583+21del
XM_024453005.1:c.481_484del	XP_024308773.1:p.Met161TrpfsTer29
XM_024453006.1:c.418_421del	XP_024308774.1:p.Met140TrpfsTer29
NM_000312.4:c.400+18_400+21del MANE Select	NP_000303.1:n.400+18_400+21del
NM_001375602.1:c.583+18_583+21del	NP_001362531.1:n.583+18_583+21del
NM_001375603.1:c.481_484del	NP_001362532.1:p.Met161TrpfsTer29
NM_001375604.1:c.463+18_463+21del	NP_001362533.1:n.463+18_463+21del
NM_001375605.1:c.418_421del	NP_001362534.1:p.Met140TrpfsTer29
NM_001375606.1:c.568+5_568+8del	NP_001362535.1:n.568+5_568+8del
NM_001375607.1:c.502_505del	NP_001362536.1:p.Met168TrpfsTer29
NM_001375608.1:c.400+18_400+21del	NP_001362537.1:n.400+18_400+21del
NM_001375609.1:c.376+18_376+21del	NP_001362538.1:n.376+18_376+21del
NM_001375610.1:c.394+18_394+21del	NP_001362539.1:n.394+18_394+21del
NM_001375611.1:c.400+18_400+21del	NP_001362540.1:n.400+18_400+21del
NM_001375613.1:c.400+18_400+21del	NP_001362542.1:n.400+18_400+21del