Canonical Allele Identifier: CA599046066

Gene: F2

Linked Data

• dbSNP Id: rs1417356695
• gnomAD v2: 11-46747411-CAGGATCAAGTCACTGT-C
• gnomAD v4: 11-46725861-CAGGATCAAGTCACTGT-C
• MyVariant Identifiers: chr11:g.46747412_46747427del (hg19) ; chr11:g.46725862_46725877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725864_46725879del , CM000673.2:g.46725864_46725879del	GRCh38
NC_000011.9:g.46747414_46747429del , CM000673.1:g.46747414_46747429del	GRCh37
NC_000011.8:g.46703990_46704005del	NCBI36
NG_008953.1:g.11672_11687del , LRG_551:g.11672_11687del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.565_580del MANE Select	ENSP00000308541.5:p.Asp189ArgfsTer2
ENST00000311907.9:c.565_580del	ENSP00000308541.5:p.Asp189ArgfsTer2
ENST00000442468.1:c.535_550del	ENSP00000387413.1:p.Asp179ArgfsTer2
ENST00000490274.1:n.345_360del
ENST00000530231.5:c.565_580del	ENSP00000433907.1:p.Asp189ArgfsTer2
NM_000506.3:c.565_580del	NP_000497.1:p.Asp189ArgfsTer2
NM_000506.4:c.565_580del , LRG_551t1:c.565_580del	NP_000497.1:p.Asp189ArgfsTer2
NM_001311257.1:c.517_532del	NP_001298186.1:p.Asp173ArgfsTer2
XR_428840.2:n.609_624del
XR_428840.4:n.600_615del
NM_000506.5:c.565_580del MANE Select	NP_000497.1:p.Asp189ArgfsTer2
NM_001311257.2:c.517_532del	NP_001298186.1:p.Asp173ArgfsTer2