Canonical Allele Identifier: CA2613334506

Gene: F2

Linked Data

• gnomAD v4: 11-46725987-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725988_46725990del , CM000673.2:g.46725988_46725990del	GRCh38
NC_000011.9:g.46747538_46747540del , CM000673.1:g.46747538_46747540del	GRCh37
NC_000011.8:g.46704114_46704116del	NCBI36
NG_008953.1:g.11796_11798del , LRG_551:g.11796_11798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.689_691del MANE Select	ENSP00000308541.5:p.His230_Gly231delinsArg
ENST00000311907.9:c.689_691del	ENSP00000308541.5:p.His230_Gly231delinsArg
ENST00000442468.1:c.659_661del	ENSP00000387413.1:p.His220_Gly221delinsArg
ENST00000490274.1:n.469_471del
ENST00000530231.5:c.689_691del	ENSP00000433907.1:p.His230_Gly231delinsArg
NM_000506.3:c.689_691del	NP_000497.1:p.His230_Gly231delinsArg
NM_000506.4:c.689_691del , LRG_551t1:c.689_691del	NP_000497.1:p.His230_Gly231delinsArg
NM_001311257.1:c.641_643del	NP_001298186.1:p.His214_Gly215delinsArg
XR_428840.2:n.733_735del
XR_428840.4:n.724_726del
NM_000506.5:c.689_691del MANE Select	NP_000497.1:p.His230_Gly231delinsArg
NM_001311257.2:c.641_643del	NP_001298186.1:p.His214_Gly215delinsArg