Canonical Allele Identifier: CA599045303

Gene: F2

Linked Data

• dbSNP Id: rs1375058021
• gnomAD v2: 11-46745013-G-GCACCTGGCCT
• MyVariant Identifiers: chr11:g.46745013_46745014insCACCTGGCCT (hg19) ; chr11:g.46723463_46723464insCACCTGGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46723463_46723464insCACCTGGCCT , CM000673.2:g.46723463_46723464insCACCTGGCCT	GRCh38
NC_000011.9:g.46745013_46745014insCACCTGGCCT , CM000673.1:g.46745013_46745014insCACCTGGCCT	GRCh37
NC_000011.8:g.46701589_46701590insCACCTGGCCT	NCBI36
NG_008953.1:g.9271_9272insCACCTGGCCT , LRG_551:g.9271_9272insCACCTGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.504_505insCACCTGGCCT MANE Select	ENSP00000308541.5:p.Cys169HisfsTer?
ENST00000311907.9:c.504_505insCACCTGGCCT	ENSP00000308541.5:p.Cys169HisfsTer?
ENST00000442468.1:c.474_475insCACCTGGCCT	ENSP00000387413.1:p.Cys159HisfsTer?
ENST00000490274.1:n.284_285insCACCTGGCCT
ENST00000530231.5:c.504_505insCACCTGGCCT	ENSP00000433907.1:p.Cys169HisfsTer?
NM_000506.3:c.504_505insCACCTGGCCT	NP_000497.1:p.Cys169HisfsTer?
NM_000506.4:c.504_505insCACCTGGCCT , LRG_551t1:c.504_505insCACCTGGCCT	NP_000497.1:p.Cys169HisfsTer?
NM_001311257.1:c.456_457insCACCTGGCCT	NP_001298186.1:p.Cys153HisfsTer?
XR_428840.2:n.548_549insCACCTGGCCT
XR_428840.4:n.539_540insCACCTGGCCT
NM_000506.5:c.504_505insCACCTGGCCT MANE Select	NP_000497.1:p.Cys169HisfsTer?
NM_001311257.2:c.456_457insCACCTGGCCT	NP_001298186.1:p.Cys153HisfsTer?