Canonical Allele Identifier: CA612868392

Gene: F10

Linked Data

• dbSNP Id: rs1358017074
• gnomAD v2: 13-113803706-AAG-A
• gnomAD v3: 13-113149392-AAG-A
• gnomAD v4: 13-113149392-AAG-A
• MyVariant Identifiers: chr13:g.113803707_113803708del (hg19) ; chr13:g.113149393_113149394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113149393_113149394del , CM000675.2:g.113149393_113149394del	GRCh38
NC_000013.10:g.113803707_113803708del , CM000675.1:g.113803707_113803708del	GRCh37
NC_000013.9:g.112851708_112851709del	NCBI36
NG_009258.1:g.31595_31596del , LRG_548:g.31595_31596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375559.8:c.1343_1344del MANE Select	ENSP00000364709.3:p.Lys448IlefsTer?
ENST00000375551.7:c.*334_*335del	ENSP00000364701.3:n.*334_*335del
ENST00000375559.7:c.1343_1344del	ENSP00000364709.3:p.Lys448IlefsTer?
ENST00000409306.5:c.*334_*335del	ENSP00000387092.1:n.*334_*335del
NM_000504.3:c.1343_1344del , LRG_548t1:c.1343_1344del	NP_000495.1:p.Lys448IlefsTer?
NM_001312674.1:c.1211_1212del	NP_001299603.1:p.Lys404IlefsTer?
NM_001312675.1:c.*334_*335del	NP_001299604.1:n.*334_*335del
NM_000504.4:c.1343_1344del MANE Select	NP_000495.1:p.Lys448IlefsTer?
NM_001312674.2:c.1211_1212del	NP_001299603.1:p.Lys404IlefsTer?
NM_001312675.2:c.*334_*335del	NP_001299604.1:n.*334_*335del