Canonical Allele Identifier: CA535639138

Gene: PROC

Linked Data

• dbSNP Id: rs1558712399
• gnomAD v2: 2-128179456-GGGAGAAAATC-G
• gnomAD v3: 2-127421880-GGGAGAAAATC-G
• gnomAD v4: 2-127421880-GGGAGAAAATC-G
• MyVariant Identifiers: chr2:g.128179457_128179466del (hg19) ; chr2:g.127421881_127421890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421881_127421890del , CM000664.2:g.127421881_127421890del	GRCh38
NC_000002.11:g.128179457_128179466del , CM000664.1:g.128179457_128179466del	GRCh37
NC_000002.10:g.127895927_127895936del	NCBI36
NG_016323.1:g.8462_8471del , LRG_599:g.8462_8471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.237+432_237+441del MANE Select	ENSP00000234071.4:n.237+432_237+441del
ENST00000234071.7:c.237+432_237+441del	ENSP00000234071.3:n.237+432_237+441del
ENST00000409048.1:c.237+432_237+441del	ENSP00000386679.1:n.237+432_237+441del
ENST00000419985.5:c.*43+432_*43+441del	ENSP00000392606.1:n.*43+432_*43+441del
ENST00000427769.5:c.237+432_237+441del	ENSP00000406295.1:n.237+432_237+441del
ENST00000429925.5:c.237+432_237+441del	ENSP00000412697.1:n.237+432_237+441del
ENST00000431364.1:c.*43+432_*43+441del	ENSP00000391220.1:n.*43+432_*43+441del
ENST00000442644.5:c.237+432_237+441del	ENSP00000411241.1:n.237+432_237+441del
ENST00000474030.5:n.320+432_320+441del
NM_000312.3:c.237+432_237+441del , LRG_599t1:c.237+432_237+441del	NP_000303.1:n.237+432_237+441del
XM_005263715.3:c.420+432_420+441del	XP_005263772.1:n.420+432_420+441del
XM_005263716.3:c.300+432_300+441del	XP_005263773.1:n.300+432_300+441del
XM_005263717.3:c.300+432_300+441del	XP_005263774.1:n.300+432_300+441del
XM_005263717.4:c.300+432_300+441del	XP_005263774.1:n.300+432_300+441del
XM_017004505.1:c.480+432_480+441del	XP_016859994.1:n.480+432_480+441del
XM_024453002.1:c.480+432_480+441del	XP_024308770.1:n.480+432_480+441del
XM_024453003.1:c.420+432_420+441del	XP_024308771.1:n.420+432_420+441del
XM_024453004.1:c.420+432_420+441del	XP_024308772.1:n.420+432_420+441del
XM_024453005.1:c.300+432_300+441del	XP_024308773.1:n.300+432_300+441del
XM_024453006.1:c.237+432_237+441del	XP_024308774.1:n.237+432_237+441del
NM_000312.4:c.237+432_237+441del MANE Select	NP_000303.1:n.237+432_237+441del
NM_001375602.1:c.420+432_420+441del	NP_001362531.1:n.420+432_420+441del
NM_001375603.1:c.300+432_300+441del	NP_001362532.1:n.300+432_300+441del
NM_001375604.1:c.300+432_300+441del	NP_001362533.1:n.300+432_300+441del
NM_001375605.1:c.237+432_237+441del	NP_001362534.1:n.237+432_237+441del
NM_001375606.1:c.300+432_300+441del	NP_001362535.1:n.300+432_300+441del
NM_001375607.1:c.321+432_321+441del	NP_001362536.1:n.321+432_321+441del
NM_001375608.1:c.237+432_237+441del	NP_001362537.1:n.237+432_237+441del
NM_001375609.1:c.213+432_213+441del	NP_001362538.1:n.213+432_213+441del
NM_001375610.1:c.231+432_231+441del	NP_001362539.1:n.231+432_231+441del
NM_001375611.1:c.237+432_237+441del	NP_001362540.1:n.237+432_237+441del
NM_001375613.1:c.237+432_237+441del	NP_001362542.1:n.237+432_237+441del