Canonical Allele Identifier: CA938325133

Gene: SERPING1

Linked Data

• dbSNP Id: rs2135308465
• gnomAD v3: 11-57600124-CAT-C
• gnomAD v4: 11-57600124-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600125_57600126del , CM000673.2:g.57600125_57600126del	GRCh38
NC_000011.9:g.57367598_57367599del , CM000673.1:g.57367598_57367599del	GRCh37
NC_000011.8:g.57124174_57124175del	NCBI36
NG_009625.1:g.7572_7573del , LRG_105:g.7572_7573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.298_299del MANE Select	ENSP00000278407.4:p.Ile100ProfsTer?
ENST00000528996.2:c.58+1797_58+1798del	ENSP00000431226.2:n.58+1797_58+1798del
ENST00000531605.2:c.51+1804_51+1805del	ENSP00000503752.1:n.51+1804_51+1805del
ENST00000619430.2:c.298_299del	ENSP00000478572.2:p.Ile100ProfsTer?
ENST00000676670.1:c.298_299del	ENSP00000504807.1:p.Ile100ProfsTer?
ENST00000676741.1:n.1380_1381del
ENST00000677275.1:n.285_286del
ENST00000677624.1:c.298_299del	ENSP00000503979.1:p.Ile100ProfsTer?
ENST00000677625.1:c.298_299del	ENSP00000502857.1:p.Ile100ProfsTer?
ENST00000677856.1:n.357_358del
ENST00000677915.1:c.298_299del	ENSP00000503118.1:p.Ile100ProfsTer?
ENST00000678533.1:c.51+1804_51+1805del	ENSP00000503873.1:n.51+1804_51+1805del
ENST00000678592.1:c.298_299del	ENSP00000504424.1:p.Ile100ProfsTer?
ENST00000278407.8:c.298_299del	ENSP00000278407.4:p.Ile100ProfsTer?
ENST00000340687.10:c.298_299del	ENSP00000341861.6:p.Ile100ProfsTer?
ENST00000378323.8:c.313_314del	ENSP00000367574.4:p.Ile105ProfsTer?
ENST00000378324.6:c.142_143del	ENSP00000367575.2:p.Ile48ProfsTer?
ENST00000403558.1:c.400_401del	ENSP00000384420.1:p.Ile134ProfsTer?
ENST00000405496.5:c.298_299del	ENSP00000384561.1:p.Ile100ProfsTer?
ENST00000531133.5:c.51+1804_51+1805del	ENSP00000435431.1:n.51+1804_51+1805del
ENST00000531797.5:c.51+1804_51+1805del	ENSP00000432554.1:n.51+1804_51+1805del
ENST00000619430.1:c.298_299del	ENSP00000478572.1:p.Ile100ProfsTer?
NM_000062.2:c.298_299del , LRG_105t1:c.298_299del	NP_000053.2:p.Ile100ProfsTer?
NM_001032295.1:c.298_299del	NP_001027466.1:p.Ile100ProfsTer?
NM_000062.3:c.298_299del MANE Select	NP_000053.2:p.Ile100ProfsTer?
NM_001032295.2:c.298_299del	NP_001027466.1:p.Ile100ProfsTer?