Canonical Allele Identifier: CA2695214198
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57611756del , CM000673.2:g.57611756del GRCh38
NC_000011.9:g.57379229del , CM000673.1:g.57379229del GRCh37
NC_000011.8:g.57135805del NCBI36
NG_009625.1:g.19203del , LRG_105:g.19203del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.1069del MANE Select ENSP00000278407.4:p.Ile357SerfsTer7
ENST00000528996.2:c.89del ENSP00000431226.2:p.Asp30ValfsTer?
ENST00000531605.2:c.*845del ENSP00000503752.1:n.*845del
ENST00000619430.2:c.865del ENSP00000478572.2:p.Ile289SerfsTer7
ENST00000676670.1:c.1069del ENSP00000504807.1:p.Ile357SerfsTer7
ENST00000676741.1:n.2151del
ENST00000677624.1:c.*489del ENSP00000503979.1:n.*489del
ENST00000677625.1:c.1030-15del ENSP00000502857.1:n.1030-15del
ENST00000677856.1:n.1322del
ENST00000677915.1:c.725del ENSP00000503118.1:p.Asp242ValfsTer?
ENST00000678533.1:c.*623del ENSP00000503873.1:n.*623del
ENST00000678592.1:c.*9del ENSP00000504424.1:n.*9del
ENST00000278407.8:c.1069del ENSP00000278407.4:p.Ile357SerfsTer7
ENST00000340687.10:c.1030-72del ENSP00000341861.6:n.1030-72del
ENST00000378323.8:c.1084del ENSP00000367574.4:p.Ile362SerfsTer7
ENST00000378324.6:c.913del ENSP00000367575.2:p.Ile305SerfsTer7
ENST00000403558.1:c.1198del ENSP00000384420.1:p.Ile400SerfsTer7
ENST00000528996.1:c.270del ENSP00000431226.1:n.270del
ENST00000530113.1:n.526del
ENST00000531133.5:c.570del ENSP00000435431.1:n.570del
ENST00000531797.5:c.*94del ENSP00000432554.1:n.*94del
ENST00000619430.1:c.349-149del ENSP00000478572.1:n.349-149del
NM_000062.2:c.1069del , LRG_105t1:c.1069del NP_000053.2:p.Ile357SerfsTer7
NM_001032295.1:c.1069del NP_001027466.1:p.Ile357SerfsTer7
NM_000062.3:c.1069del MANE Select NP_000053.2:p.Ile357SerfsTer7
NM_001032295.2:c.1069del NP_001027466.1:p.Ile357SerfsTer7