Canonical Allele Identifier: CA612868399

Gene: F10

Linked Data

• dbSNP Id: rs1440370309
• gnomAD v2: 13-113803762-G-GA
• gnomAD v4: 13-113149448-G-GA
• MyVariant Identifiers: chr13:g.113803762_113803763insA (hg19) ; chr13:g.113149448_113149449insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149452dup , CM000675.2:g.113149452dup	GRCh38
NC_000013.10:g.113803766dup , CM000675.1:g.113803766dup	GRCh37
NC_000013.9:g.112851767dup	NCBI36
NG_009258.1:g.31654dup , LRG_548:g.31654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1402dup MANE Select	ENSP00000364709.3:p.Thr468AsnfsTer?
ENST00000375551.7:c.*393dup	ENSP00000364701.3:n.*393dup
ENST00000375559.7:c.1402dup	ENSP00000364709.3:p.Thr468AsnfsTer?
ENST00000409306.5:c.*393dup	ENSP00000387092.1:n.*393dup
NM_000504.3:c.1402dup , LRG_548t1:c.1402dup	NP_000495.1:p.Thr468AsnfsTer?
NM_001312674.1:c.1270dup	NP_001299603.1:p.Thr424AsnfsTer?
NM_001312675.1:c.*393dup	NP_001299604.1:n.*393dup
NM_000504.4:c.1402dup MANE Select	NP_000495.1:p.Thr468AsnfsTer?
NM_001312674.2:c.1270dup	NP_001299603.1:p.Thr424AsnfsTer?
NM_001312675.2:c.*393dup	NP_001299604.1:n.*393dup