Canonical Allele Identifier: CA2660996422

Gene: PROC

Linked Data

• gnomAD v4: 2-127423193-T-TTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423193_127423194insTGGGGGG , CM000664.2:g.127423193_127423194insTGGGGGG	GRCh38
NC_000002.11:g.128180769_128180770insTGGGGGG , CM000664.1:g.128180769_128180770insTGGGGGG	GRCh37
NC_000002.10:g.127897239_127897240insTGGGGGG	NCBI36
NG_016323.1:g.9774_9775insTGGGGGG , LRG_599:g.9774_9775insTGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.400+22_400+23insTGGGGGG MANE Select	ENSP00000234071.4:n.400+22_400+23insTGGGGGG
ENST00000234071.7:c.400+22_400+23insTGGGGGG	ENSP00000234071.3:n.400+22_400+23insTGGGGGG
ENST00000409048.1:c.422_423insTGGGGGG	ENSP00000386679.1:p.Ala142GlyfsTer?
ENST00000419985.5:c.*228_*229insTGGGGGG	ENSP00000392606.1:n.*228_*229insTGGGGGG
ENST00000442644.5:c.400+22_400+23insTGGGGGG	ENSP00000411241.1:n.400+22_400+23insTGGGGGG
NM_000312.3:c.400+22_400+23insTGGGGGG , LRG_599t1:c.400+22_400+23insTGGGGGG	NP_000303.1:n.400+22_400+23insTGGGGGG
XM_005263715.3:c.583+22_583+23insTGGGGGG	XP_005263772.1:n.583+22_583+23insTGGGGGG
XM_005263716.3:c.485_486insTGGGGGG	XP_005263773.1:p.Ala163GlyfsTer?
XM_005263717.3:c.463+22_463+23insTGGGGGG	XP_005263774.1:n.463+22_463+23insTGGGGGG
XM_005263717.4:c.463+22_463+23insTGGGGGG	XP_005263774.1:n.463+22_463+23insTGGGGGG
XM_017004505.1:c.643+22_643+23insTGGGGGG	XP_016859994.1:n.643+22_643+23insTGGGGGG
XM_024453002.1:c.665_666insTGGGGGG	XP_024308770.1:p.Ala223GlyfsTer?
XM_024453003.1:c.605_606insTGGGGGG	XP_024308771.1:p.Ala203GlyfsTer?
XM_024453004.1:c.583+22_583+23insTGGGGGG	XP_024308772.1:n.583+22_583+23insTGGGGGG
XM_024453005.1:c.485_486insTGGGGGG	XP_024308773.1:p.Ala163GlyfsTer?
XM_024453006.1:c.422_423insTGGGGGG	XP_024308774.1:p.Ala142GlyfsTer?
NM_000312.4:c.400+22_400+23insTGGGGGG MANE Select	NP_000303.1:n.400+22_400+23insTGGGGGG
NM_001375602.1:c.583+22_583+23insTGGGGGG	NP_001362531.1:n.583+22_583+23insTGGGGGG
NM_001375603.1:c.485_486insTGGGGGG	NP_001362532.1:p.Ala163GlyfsTer?
NM_001375604.1:c.463+22_463+23insTGGGGGG	NP_001362533.1:n.463+22_463+23insTGGGGGG
NM_001375605.1:c.422_423insTGGGGGG	NP_001362534.1:p.Ala142GlyfsTer?
NM_001375606.1:c.568+9_568+10insTGGGGGG	NP_001362535.1:n.568+9_568+10insTGGGGGG
NM_001375607.1:c.506_507insTGGGGGG	NP_001362536.1:p.Ala170GlyfsTer?
NM_001375608.1:c.400+22_400+23insTGGGGGG	NP_001362537.1:n.400+22_400+23insTGGGGGG
NM_001375609.1:c.376+22_376+23insTGGGGGG	NP_001362538.1:n.376+22_376+23insTGGGGGG
NM_001375610.1:c.394+22_394+23insTGGGGGG	NP_001362539.1:n.394+22_394+23insTGGGGGG
NM_001375611.1:c.400+22_400+23insTGGGGGG	NP_001362540.1:n.400+22_400+23insTGGGGGG
NM_001375613.1:c.400+22_400+23insTGGGGGG	NP_001362542.1:n.400+22_400+23insTGGGGGG