Canonical Allele Identifier: CA612868396

Gene: F10

Linked Data

• dbSNP Id: rs1595099838
• gnomAD v2: 13-113803710-A-AC
• gnomAD v3: 13-113149396-A-AC
• gnomAD v4: 13-113149396-A-AC
• MyVariant Identifiers: chr13:g.113803710_113803711insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149397dup , CM000675.2:g.113149397dup	GRCh38
NC_000013.10:g.113803711dup , CM000675.1:g.113803711dup	GRCh37
NC_000013.9:g.112851712dup	NCBI36
NG_009258.1:g.31599dup , LRG_548:g.31599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1347dup MANE Select	ENSP00000364709.3:p.Gly450ArgfsTer?
ENST00000375551.7:c.*338dup	ENSP00000364701.3:n.*338dup
ENST00000375559.7:c.1347dup	ENSP00000364709.3:p.Gly450ArgfsTer?
ENST00000409306.5:c.*338dup	ENSP00000387092.1:n.*338dup
NM_000504.3:c.1347dup , LRG_548t1:c.1347dup	NP_000495.1:p.Gly450ArgfsTer?
NM_001312674.1:c.1215dup	NP_001299603.1:p.Gly406ArgfsTer?
NM_001312675.1:c.*338dup	NP_001299604.1:n.*338dup
NM_000504.4:c.1347dup MANE Select	NP_000495.1:p.Gly450ArgfsTer?
NM_001312674.2:c.1215dup	NP_001299603.1:p.Gly406ArgfsTer?
NM_001312675.2:c.*338dup	NP_001299604.1:n.*338dup