Canonical Allele Identifier: CA612868383

Gene: F10

Linked Data

• dbSNP Id: rs1347320269
• gnomAD v2: 13-113803693-TGCCCG-T
• gnomAD v3: 13-113149379-TGCCCG-T
• gnomAD v4: 13-113149379-TGCCCG-T
• MyVariant Identifiers: chr13:g.113803694_113803698del (hg19) ; chr13:g.113803694_113803704delinsTAAGGG (hg19) ; chr13:g.113149380_113149384del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149380_113149384del , CM000675.2:g.113149380_113149384del	GRCh38
NC_000013.10:g.113803694_113803698del , CM000675.1:g.113803694_113803698del	GRCh37
NC_000013.9:g.112851695_112851699del	NCBI36
NG_009258.1:g.31582_31586del , LRG_548:g.31582_31586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1330_1334del MANE Select	ENSP00000364709.3:p.Ala444Ter
ENST00000375551.7:c.*321_*325del	ENSP00000364701.3:n.*321_*325del
ENST00000375559.7:c.1330_1334del	ENSP00000364709.3:p.Ala444Ter
ENST00000409306.5:c.*321_*325del	ENSP00000387092.1:n.*321_*325del
NM_000504.3:c.1330_1334del , LRG_548t1:c.1330_1334del	NP_000495.1:p.Ala444Ter
NM_001312674.1:c.1198_1202del	NP_001299603.1:p.Ala400Ter
NM_001312675.1:c.*321_*325del	NP_001299604.1:n.*321_*325del
NM_000504.4:c.1330_1334del MANE Select	NP_000495.1:p.Ala444Ter
NM_001312674.2:c.1198_1202del	NP_001299603.1:p.Ala400Ter
NM_001312675.2:c.*321_*325del	NP_001299604.1:n.*321_*325del