Canonical Allele Identifier: CA2623809559

Gene: F7

Linked Data

• gnomAD v4: 13-113118994-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118998dup , CM000675.2:g.113118998dup	GRCh38
NC_000013.10:g.113773312dup , CM000675.1:g.113773312dup	GRCh37
NC_000013.9:g.112821313dup	NCBI36
NG_009258.1:g.1200dup , LRG_548:g.1200dup
NG_009262.1:g.18208dup , LRG_554:g.18208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1325dup MANE Select	ENSP00000329546.4:p.Phe443IlefsTer?
ENST00000346342.7:c.1325dup	ENSP00000329546.3:p.Phe443IlefsTer?
ENST00000375581.3:c.1391dup	ENSP00000364731.3:p.Phe465IlefsTer?
ENST00000541084.5:c.1139dup	ENSP00000442051.2:p.Phe381IlefsTer?
NM_000131.4:c.1391dup , LRG_554t1:c.1391dup	NP_000122.1:p.Phe465IlefsTer?
NM_001267554.1:c.1139dup	NP_001254483.1:p.Phe381IlefsTer?
NM_019616.3:c.1325dup , LRG_554t2:c.1325dup	NP_062562.1:p.Phe443IlefsTer?
NR_051961.1:n.1412dup
XM_006719963.2:c.1184dup	XP_006720026.1:p.Phe396IlefsTer?
XM_011537474.1:c.1433dup	XP_011535776.1:p.Phe479IlefsTer?
XM_011537475.1:c.1247dup	XP_011535777.1:p.Phe417IlefsTer?
XM_011537476.1:c.1085dup	XP_011535778.1:p.Phe363IlefsTer?
XM_011537477.1:c.1394dup	XP_011535779.1:p.Phe466IlefsTer?
XM_006719963.3:c.1229dup	XP_006720026.2:p.Phe411IlefsTer?
XM_011537474.2:c.1478dup	XP_011535776.2:p.Phe494IlefsTer?
XM_011537475.2:c.1292dup	XP_011535777.2:p.Phe432IlefsTer?
XM_011537476.2:c.1085dup	XP_011535778.1:p.Phe363IlefsTer?
NM_019616.4:c.1325dup MANE Select	NP_062562.1:p.Phe443IlefsTer?
NR_051961.2:n.1409dup
NM_001267554.2:c.1139dup	NP_001254483.1:p.Phe381IlefsTer?