Canonical Allele Identifier: CA5967019

Gene: F2

Linked Data

• dbSNP Id: rs757358501
• ExAC: 11:46747441 CGCTCCGAAG / C
• gnomAD v2: 11-46747441-CGCTCCGAAG-C
• MyVariant Identifiers: chr11:g.46747442_46747450del (hg19) ; chr11:g.46725892_46725900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725897_46725905del , CM000673.2:g.46725897_46725905del	GRCh38
NC_000011.9:g.46747447_46747455del , CM000673.1:g.46747447_46747455del	GRCh37
NC_000011.8:g.46704023_46704031del	NCBI36
NG_008953.1:g.11705_11713del , LRG_551:g.11705_11713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.598_606del MANE Select	ENSP00000308541.5:p.Glu200_Ser202del
ENST00000311907.9:c.598_606del	ENSP00000308541.5:p.Glu200_Ser202del
ENST00000442468.1:c.568_576del	ENSP00000387413.1:p.Glu190_Ser192del
ENST00000490274.1:n.378_386del
ENST00000530231.5:c.598_606del	ENSP00000433907.1:p.Glu200_Ser202del
NM_000506.3:c.598_606del	NP_000497.1:p.Glu200_Ser202del
NM_000506.4:c.598_606del , LRG_551t1:c.598_606del	NP_000497.1:p.Glu200_Ser202del
NM_001311257.1:c.550_558del	NP_001298186.1:p.Glu184_Ser186del
XR_428840.2:n.642_650del
XR_428840.4:n.633_641del
NM_000506.5:c.598_606del MANE Select	NP_000497.1:p.Glu200_Ser202del
NM_001311257.2:c.550_558del	NP_001298186.1:p.Glu184_Ser186del