Canonical Allele Identifier: CA16619351
Gene: SERPING1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419322
ClinVar RCV Id: RCV000482510
dbSNP Id: rs1064793792

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57606180del , CM000673.2:g.57606180del GRCh38
NC_000011.9:g.57373653del , CM000673.1:g.57373653del GRCh37
NC_000011.8:g.57130229del NCBI36
NG_009625.1:g.13627del , LRG_105:g.13627del

Transcript Alleles

HGVS Amino-acid change
ENST00000278407.9:c.856del MANE Select ENSP00000278407.4:p.Arg286AlafsTer10
ENST00000528996.2:c.59-5546del ENSP00000431226.2:n.59-5546del
ENST00000531605.2:c.*632del ENSP00000503752.1:n.*632del
ENST00000619430.2:c.686-228del ENSP00000478572.2:n.686-228del
ENST00000676670.1:c.856del ENSP00000504807.1:p.Arg286AlafsTer10
ENST00000676741.1:n.1938del
ENST00000677624.1:c.*276del ENSP00000503979.1:n.*276del
ENST00000677625.1:c.856del ENSP00000502857.1:p.Arg286AlafsTer10
ENST00000677856.1:n.915del
ENST00000677915.1:c.685+4011del ENSP00000503118.1:n.685+4011del
ENST00000678533.1:c.*410del ENSP00000503873.1:n.*410del
ENST00000678592.1:c.856del ENSP00000504424.1:p.Arg286AlafsTer10
ENST00000278407.8:c.856del ENSP00000278407.4:p.Arg286AlafsTer10
ENST00000340687.10:c.856del ENSP00000341861.6:p.Arg286AlafsTer10
ENST00000378323.8:c.871del ENSP00000367574.4:p.Arg291AlafsTer10
ENST00000378324.6:c.700del ENSP00000367575.2:p.Arg234AlafsTer10
ENST00000403558.1:c.958del ENSP00000384420.1:p.Arg320AlafsTer10
ENST00000531133.5:c.357del ENSP00000435431.1:n.357del
ENST00000531797.5:c.*54+4011del ENSP00000432554.1:n.*54+4011del
ENST00000619430.1:c.349-5725del ENSP00000478572.1:n.349-5725del
NM_000062.2:c.856del , LRG_105t1:c.856del NP_000053.2:p.Arg286AlafsTer10
NM_001032295.1:c.856del NP_001027466.1:p.Arg286AlafsTer10
NM_000062.3:c.856del MANE Select NP_000053.2:p.Arg286AlafsTer10
NM_001032295.2:c.856del NP_001027466.1:p.Arg286AlafsTer10