Canonical Allele Identifier: CA5967196

Gene: F2

Linked Data

• ClinVar Variation Id: 2867327
• ClinVar RCV Id: RCV003626332
• dbSNP Id: rs551797059
• ExAC: 11:46749525 GCTTC / G
• gnomAD v2: 11-46749525-GCTTC-G
• gnomAD v3: 11-46727975-GCTTC-G
• gnomAD v4: 11-46727975-GCTTC-G
• MyVariant Identifiers: chr11:g.46749526_46749529del (hg19) ; chr11:g.46727977_46727980del (hg38) ; chr11:g.46727976_46727979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46727978_46727981del , CM000673.2:g.46727978_46727981del	GRCh38
NC_000011.9:g.46749528_46749531del , CM000673.1:g.46749528_46749531del	GRCh37
NC_000011.8:g.46706104_46706107del	NCBI36
NG_008953.1:g.13786_13789del , LRG_551:g.13786_13789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1131-18_1131-15del MANE Select	ENSP00000308541.5:n.1131-18_1131-15del
ENST00000311907.9:c.1131-18_1131-15del	ENSP00000308541.5:n.1131-18_1131-15del
ENST00000530231.5:c.1131-18_1131-15del	ENSP00000433907.1:n.1131-18_1131-15del
NM_000506.3:c.1131-18_1131-15del	NP_000497.1:n.1131-18_1131-15del
NM_000506.4:c.1131-18_1131-15del , LRG_551t1:c.1131-18_1131-15del	NP_000497.1:n.1131-18_1131-15del
NM_001311257.1:c.1083-18_1083-15del	NP_001298186.1:n.1083-18_1083-15del
XR_428840.2:n.1175-18_1175-15del
XR_428840.4:n.1166-18_1166-15del
NM_000506.5:c.1131-18_1131-15del MANE Select	NP_000497.1:n.1131-18_1131-15del
NM_001311257.2:c.1083-18_1083-15del	NP_001298186.1:n.1083-18_1083-15del