Canonical Allele Identifier: CA2607723205

Gene: F7

Linked Data

• gnomAD v4: 13-113119488-C-CAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119506_113119581dup , CM000675.2:g.113119506_113119581dup	GRCh38
NC_000013.10:g.113773820_113773895dup , CM000675.1:g.113773820_113773895dup	GRCh37
NC_000013.9:g.112821821_112821896dup	NCBI36
NG_009258.1:g.1708_1783dup , LRG_548:g.1708_1783dup
NG_009262.1:g.18716_18791dup , LRG_554:g.18716_18791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*498_*573dup MANE Select	ENSP00000329546.4:n.*498_*573dup
ENST00000346342.7:c.*498_*573dup	ENSP00000329546.3:n.*498_*573dup
ENST00000375581.3:c.*498_*573dup	ENSP00000364731.3:n.*498_*573dup
ENST00000541084.5:c.*498_*573dup	ENSP00000442051.2:n.*498_*573dup
NM_000131.4:c.*498_*573dup , LRG_554t1:c.*498_*573dup	NP_000122.1:n.*498_*573dup
NM_001267554.1:c.*498_*573dup	NP_001254483.1:n.*498_*573dup
NM_019616.3:c.*498_*573dup , LRG_554t2:c.*498_*573dup	NP_062562.1:n.*498_*573dup
NR_051961.1:n.1920_1995dup
XM_006719963.2:c.*498_*573dup	XP_006720026.1:n.*498_*573dup
XM_011537474.1:c.*498_*573dup	XP_011535776.1:n.*498_*573dup
XM_011537475.1:c.*498_*573dup	XP_011535777.1:n.*498_*573dup
XM_011537476.1:c.*498_*573dup	XP_011535778.1:n.*498_*573dup
XM_011537477.1:c.*498_*573dup	XP_011535779.1:n.*498_*573dup
XM_006719963.3:c.*498_*573dup	XP_006720026.2:n.*498_*573dup
XM_011537474.2:c.*498_*573dup	XP_011535776.2:n.*498_*573dup
XM_011537475.2:c.*498_*573dup	XP_011535777.2:n.*498_*573dup
XM_011537476.2:c.*498_*573dup	XP_011535778.1:n.*498_*573dup
NM_019616.4:c.*498_*573dup MANE Select	NP_062562.1:n.*498_*573dup
NR_051961.2:n.1917_1992dup
NM_001267554.2:c.*498_*573dup	NP_001254483.1:n.*498_*573dup