Canonical Allele Identifier: CA2623810948

Gene: F7

Linked Data

• gnomAD v4: 13-113119593-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119593_113119594insCAG , CM000675.2:g.113119593_113119594insCAG	GRCh38
NC_000013.10:g.113773907_113773908insCAG , CM000675.1:g.113773907_113773908insCAG	GRCh37
NC_000013.9:g.112821908_112821909insCAG	NCBI36
NG_009258.1:g.1795_1796insCAG , LRG_548:g.1795_1796insCAG
NG_009262.1:g.18803_18804insCAG , LRG_554:g.18803_18804insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*585_*586insCAG MANE Select	ENSP00000329546.4:n.*585_*586insCAG
ENST00000346342.7:c.*585_*586insCAG	ENSP00000329546.3:n.*585_*586insCAG
ENST00000375581.3:c.*585_*586insCAG	ENSP00000364731.3:n.*585_*586insCAG
ENST00000541084.5:c.*585_*586insCAG	ENSP00000442051.2:n.*585_*586insCAG
NM_000131.4:c.*585_*586insCAG , LRG_554t1:c.*585_*586insCAG	NP_000122.1:n.*585_*586insCAG
NM_001267554.1:c.*585_*586insCAG	NP_001254483.1:n.*585_*586insCAG
NM_019616.3:c.*585_*586insCAG , LRG_554t2:c.*585_*586insCAG	NP_062562.1:n.*585_*586insCAG
NR_051961.1:n.2007_2008insCAG
XM_006719963.2:c.*585_*586insCAG	XP_006720026.1:n.*585_*586insCAG
XM_011537474.1:c.*585_*586insCAG	XP_011535776.1:n.*585_*586insCAG
XM_011537475.1:c.*585_*586insCAG	XP_011535777.1:n.*585_*586insCAG
XM_011537476.1:c.*585_*586insCAG	XP_011535778.1:n.*585_*586insCAG
XM_011537477.1:c.*585_*586insCAG	XP_011535779.1:n.*585_*586insCAG
XM_006719963.3:c.*585_*586insCAG	XP_006720026.2:n.*585_*586insCAG
XM_011537474.2:c.*585_*586insCAG	XP_011535776.2:n.*585_*586insCAG
XM_011537475.2:c.*585_*586insCAG	XP_011535777.2:n.*585_*586insCAG
XM_011537476.2:c.*585_*586insCAG	XP_011535778.1:n.*585_*586insCAG
NM_019616.4:c.*585_*586insCAG MANE Select	NP_062562.1:n.*585_*586insCAG
NR_051961.2:n.2004_2005insCAG
NM_001267554.2:c.*585_*586insCAG	NP_001254483.1:n.*585_*586insCAG