Canonical Allele Identifier: CA2582341737

Gene: F7

Linked Data

• ClinVar Variation Id: 2584870
• ClinVar RCV Id: RCV003340770

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118540_113118541insCA , CM000675.2:g.113118540_113118541insCA	GRCh38
NC_000013.10:g.113772854_113772855insCA , CM000675.1:g.113772854_113772855insCA	GRCh37
NC_000013.9:g.112820855_112820856insCA	NCBI36
NG_009258.1:g.742_743insCA , LRG_548:g.742_743insCA
NG_009262.1:g.17750_17751insCA , LRG_554:g.17750_17751insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.867_868insCA MANE Select	ENSP00000329546.4:p.Val290GlnfsTer?
ENST00000346342.7:c.867_868insCA	ENSP00000329546.3:p.Val290GlnfsTer?
ENST00000375581.3:c.933_934insCA	ENSP00000364731.3:p.Val312GlnfsTer?
ENST00000541084.5:c.681_682insCA	ENSP00000442051.2:p.Val228GlnfsTer?
NM_000131.4:c.933_934insCA , LRG_554t1:c.933_934insCA	NP_000122.1:p.Val312GlnfsTer?
NM_001267554.1:c.681_682insCA	NP_001254483.1:p.Val228GlnfsTer?
NM_019616.3:c.867_868insCA , LRG_554t2:c.867_868insCA	NP_062562.1:p.Val290GlnfsTer?
NR_051961.1:n.954_955insCA
XM_006719963.2:c.726_727insCA	XP_006720026.1:p.Val243GlnfsTer?
XM_011537474.1:c.975_976insCA	XP_011535776.1:p.Val326GlnfsTer?
XM_011537475.1:c.789_790insCA	XP_011535777.1:p.Val264GlnfsTer?
XM_011537476.1:c.627_628insCA	XP_011535778.1:p.Val210GlnfsTer?
XM_011537477.1:c.936_937insCA	XP_011535779.1:p.Val313GlnfsTer?
XM_006719963.3:c.771_772insCA	XP_006720026.2:p.Val258GlnfsTer?
XM_011537474.2:c.1020_1021insCA	XP_011535776.2:p.Val341GlnfsTer?
XM_011537475.2:c.834_835insCA	XP_011535777.2:p.Val279GlnfsTer?
XM_011537476.2:c.627_628insCA	XP_011535778.1:p.Val210GlnfsTer?
NM_019616.4:c.867_868insCA MANE Select	NP_062562.1:p.Val290GlnfsTer?
NR_051961.2:n.951_952insCA
NM_001267554.2:c.681_682insCA	NP_001254483.1:p.Val228GlnfsTer?