Canonical Allele Identifier: CA2752102862

Gene: PROC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423186_127423196del , CM000664.2:g.127423186_127423196del	GRCh38
NC_000002.11:g.128180762_128180772del , CM000664.1:g.128180762_128180772del	GRCh37
NC_000002.10:g.127897232_127897242del	NCBI36
NG_016323.1:g.9767_9777del , LRG_599:g.9767_9777del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+15_400+25del MANE Select	ENSP00000234071.4:n.400+15_400+25del
ENST00000234071.7:c.400+15_400+25del	ENSP00000234071.3:n.400+15_400+25del
ENST00000409048.1:c.415_425del	ENSP00000386679.1:p.Trp139GlyfsTer?
ENST00000419985.5:c.*221_*231del	ENSP00000392606.1:n.*221_*231del
ENST00000442644.5:c.400+15_400+25del	ENSP00000411241.1:n.400+15_400+25del
NM_000312.3:c.400+15_400+25del , LRG_599t1:c.400+15_400+25del	NP_000303.1:n.400+15_400+25del
XM_005263715.3:c.583+15_583+25del	XP_005263772.1:n.583+15_583+25del
XM_005263716.3:c.478_488del	XP_005263773.1:p.Trp160GlyfsTer?
XM_005263717.3:c.463+15_463+25del	XP_005263774.1:n.463+15_463+25del
XM_005263717.4:c.463+15_463+25del	XP_005263774.1:n.463+15_463+25del
XM_017004505.1:c.643+15_643+25del	XP_016859994.1:n.643+15_643+25del
XM_024453002.1:c.658_668del	XP_024308770.1:p.Trp220GlyfsTer?
XM_024453003.1:c.598_608del	XP_024308771.1:p.Trp200GlyfsTer?
XM_024453004.1:c.583+15_583+25del	XP_024308772.1:n.583+15_583+25del
XM_024453005.1:c.478_488del	XP_024308773.1:p.Trp160GlyfsTer?
XM_024453006.1:c.415_425del	XP_024308774.1:p.Trp139GlyfsTer?
NM_000312.4:c.400+15_400+25del MANE Select	NP_000303.1:n.400+15_400+25del
NM_001375602.1:c.583+15_583+25del	NP_001362531.1:n.583+15_583+25del
NM_001375603.1:c.478_488del	NP_001362532.1:p.Trp160GlyfsTer?
NM_001375604.1:c.463+15_463+25del	NP_001362533.1:n.463+15_463+25del
NM_001375605.1:c.415_425del	NP_001362534.1:p.Trp139GlyfsTer?
NM_001375606.1:c.568+2_568+12del	NP_001362535.1:n.568+2_568+12del
NM_001375607.1:c.499_509del	NP_001362536.1:p.Trp167GlyfsTer?
NM_001375608.1:c.400+15_400+25del	NP_001362537.1:n.400+15_400+25del
NM_001375609.1:c.376+15_376+25del	NP_001362538.1:n.376+15_376+25del
NM_001375610.1:c.394+15_394+25del	NP_001362539.1:n.394+15_394+25del
NM_001375611.1:c.400+15_400+25del	NP_001362540.1:n.400+15_400+25del
NM_001375613.1:c.400+15_400+25del	NP_001362542.1:n.400+15_400+25del