Canonical Allele Identifier: CA2613601111

Gene: SERPING1

Linked Data

• dbSNP Id: rs1945331019
• gnomAD v4: 11-57600106-G-GGCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600106_57600107insGCCCC , CM000673.2:g.57600106_57600107insGCCCC	GRCh38
NC_000011.9:g.57367579_57367580insGCCCC , CM000673.1:g.57367579_57367580insGCCCC	GRCh37
NC_000011.8:g.57124155_57124156insGCCCC	NCBI36
NG_009625.1:g.7553_7554insGCCCC , LRG_105:g.7553_7554insGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.279_280insGCCCC MANE Select	ENSP00000278407.4:p.Pro94AlafsTer?
ENST00000528996.2:c.58+1778_58+1779insGCCCC	ENSP00000431226.2:n.58+1778_58+1779insGCCCC
ENST00000531605.2:c.51+1785_51+1786insGCCCC	ENSP00000503752.1:n.51+1785_51+1786insGCCCC
ENST00000619430.2:c.279_280insGCCCC	ENSP00000478572.2:p.Pro94AlafsTer?
ENST00000676670.1:c.279_280insGCCCC	ENSP00000504807.1:p.Pro94AlafsTer?
ENST00000676741.1:n.1361_1362insGCCCC
ENST00000677275.1:n.266_267insGCCCC
ENST00000677624.1:c.279_280insGCCCC	ENSP00000503979.1:p.Pro94AlafsTer?
ENST00000677625.1:c.279_280insGCCCC	ENSP00000502857.1:p.Pro94AlafsTer?
ENST00000677856.1:n.338_339insGCCCC
ENST00000677915.1:c.279_280insGCCCC	ENSP00000503118.1:p.Pro94AlafsTer?
ENST00000678533.1:c.51+1785_51+1786insGCCCC	ENSP00000503873.1:n.51+1785_51+1786insGCCCC
ENST00000678592.1:c.279_280insGCCCC	ENSP00000504424.1:p.Pro94AlafsTer?
ENST00000278407.8:c.279_280insGCCCC	ENSP00000278407.4:p.Pro94AlafsTer?
ENST00000340687.10:c.279_280insGCCCC	ENSP00000341861.6:p.Pro94AlafsTer?
ENST00000378323.8:c.294_295insGCCCC	ENSP00000367574.4:p.Pro99AlafsTer?
ENST00000378324.6:c.123_124insGCCCC	ENSP00000367575.2:p.Pro42AlafsTer?
ENST00000403558.1:c.381_382insGCCCC	ENSP00000384420.1:p.Pro128AlafsTer?
ENST00000405496.5:c.279_280insGCCCC	ENSP00000384561.1:p.Pro94AlafsTer?
ENST00000531133.5:c.51+1785_51+1786insGCCCC	ENSP00000435431.1:n.51+1785_51+1786insGCCCC
ENST00000531797.5:c.51+1785_51+1786insGCCCC	ENSP00000432554.1:n.51+1785_51+1786insGCCCC
ENST00000619430.1:c.279_280insGCCCC	ENSP00000478572.1:p.Pro94AlafsTer?
NM_000062.2:c.279_280insGCCCC , LRG_105t1:c.279_280insGCCCC	NP_000053.2:p.Pro94AlafsTer?
NM_001032295.1:c.279_280insGCCCC	NP_001027466.1:p.Pro94AlafsTer?
NM_000062.3:c.279_280insGCCCC MANE Select	NP_000053.2:p.Pro94AlafsTer?
NM_001032295.2:c.279_280insGCCCC	NP_001027466.1:p.Pro94AlafsTer?