Canonical Allele Identifier: CA612868395

Gene: F10

Linked Data

• dbSNP Id: rs1253260585
• gnomAD v2: 13-113803708-G-GA
• gnomAD v3: 13-113149394-G-GA
• gnomAD v4: 13-113149394-G-GA
• MyVariant Identifiers: chr13:g.113803708_113803709insA (hg19) ; chr13:g.113149394_113149395insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149394_113149395insA , CM000675.2:g.113149394_113149395insA	GRCh38
NC_000013.10:g.113803708_113803709insA , CM000675.1:g.113803708_113803709insA	GRCh37
NC_000013.9:g.112851709_112851710insA	NCBI36
NG_009258.1:g.31596_31597insA , LRG_548:g.31596_31597insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1344_1345insA MANE Select	ENSP00000364709.3:p.Tyr449IlefsTer?
ENST00000375551.7:c.*335_*336insA	ENSP00000364701.3:n.*335_*336insA
ENST00000375559.7:c.1344_1345insA	ENSP00000364709.3:p.Tyr449IlefsTer?
ENST00000409306.5:c.*335_*336insA	ENSP00000387092.1:n.*335_*336insA
NM_000504.3:c.1344_1345insA , LRG_548t1:c.1344_1345insA	NP_000495.1:p.Tyr449IlefsTer?
NM_001312674.1:c.1212_1213insA	NP_001299603.1:p.Tyr405IlefsTer?
NM_001312675.1:c.*335_*336insA	NP_001299604.1:n.*335_*336insA
NM_000504.4:c.1344_1345insA MANE Select	NP_000495.1:p.Tyr449IlefsTer?
NM_001312674.2:c.1212_1213insA	NP_001299603.1:p.Tyr405IlefsTer?
NM_001312675.2:c.*335_*336insA	NP_001299604.1:n.*335_*336insA