Canonical Allele Identifier: CA612868376

Gene: F10

Linked Data

• dbSNP Id: rs1595099761
• gnomAD v2: 13-113803682-G-GTTTTTTTTTTTAAT
• gnomAD v4: 13-113149368-G-GTTTTTTTTTTTAAT
• MyVariant Identifiers: chr13:g.113803682_113803683insTTTTTTTTTTTAAT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149368_113149369insTTTTTTTTTTTAAT , CM000675.2:g.113149368_113149369insTTTTTTTTTTTAAT	GRCh38
NC_000013.10:g.113803682_113803683insTTTTTTTTTTTAAT , CM000675.1:g.113803682_113803683insTTTTTTTTTTTAAT	GRCh37
NC_000013.9:g.112851683_112851684insTTTTTTTTTTTAAT	NCBI36
NG_009258.1:g.31570_31571insTTTTTTTTTTTAAT , LRG_548:g.31570_31571insTTTTTTTTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1318_1319insTTTTTTTTTTTAAT MANE Select	ENSP00000364709.3:p.Gly440ValfsTer32
ENST00000375551.7:c.*309_*310insTTTTTTTTTTTAAT	ENSP00000364701.3:n.*309_*310insTTTTTTTTTTTAAT
ENST00000375559.7:c.1318_1319insTTTTTTTTTTTAAT	ENSP00000364709.3:p.Gly440ValfsTer32
ENST00000409306.5:c.*309_*310insTTTTTTTTTTTAAT	ENSP00000387092.1:n.*309_*310insTTTTTTTTTTTAAT
NM_000504.3:c.1318_1319insTTTTTTTTTTTAAT , LRG_548t1:c.1318_1319insTTTTTTTTTTTAAT	NP_000495.1:p.Gly440ValfsTer32
NM_001312674.1:c.1186_1187insTTTTTTTTTTTAAT	NP_001299603.1:p.Gly396ValfsTer32
NM_001312675.1:c.*309_*310insTTTTTTTTTTTAAT	NP_001299604.1:n.*309_*310insTTTTTTTTTTTAAT
NM_000504.4:c.1318_1319insTTTTTTTTTTTAAT MANE Select	NP_000495.1:p.Gly440ValfsTer32
NM_001312674.2:c.1186_1187insTTTTTTTTTTTAAT	NP_001299603.1:p.Gly396ValfsTer32
NM_001312675.2:c.*309_*310insTTTTTTTTTTTAAT	NP_001299604.1:n.*309_*310insTTTTTTTTTTTAAT