Canonical Allele Identifier: CA2838032570

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118647del , CM000675.2:g.113118647del	GRCh38
NC_000013.10:g.113772961del , CM000675.1:g.113772961del	GRCh37
NC_000013.9:g.112820962del	NCBI36
NG_009258.1:g.849del , LRG_548:g.849del
NG_009262.1:g.17857del , LRG_554:g.17857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.974del MANE Select	ENSP00000329546.4:p.Leu325ArgfsTer19
ENST00000346342.7:c.974del	ENSP00000329546.3:p.Leu325ArgfsTer19
ENST00000375581.3:c.1040del	ENSP00000364731.3:p.Leu347ArgfsTer19
ENST00000541084.5:c.788del	ENSP00000442051.2:p.Leu263ArgfsTer19
NM_000131.4:c.1040del , LRG_554t1:c.1040del	NP_000122.1:p.Leu347ArgfsTer19
NM_001267554.1:c.788del	NP_001254483.1:p.Leu263ArgfsTer19
NM_019616.3:c.974del , LRG_554t2:c.974del	NP_062562.1:p.Leu325ArgfsTer19
NR_051961.1:n.1061del
XM_006719963.2:c.833del	XP_006720026.1:p.Leu278ArgfsTer19
XM_011537474.1:c.1082del	XP_011535776.1:p.Leu361ArgfsTer19
XM_011537475.1:c.896del	XP_011535777.1:p.Leu299ArgfsTer19
XM_011537476.1:c.734del	XP_011535778.1:p.Leu245ArgfsTer19
XM_011537477.1:c.1043del	XP_011535779.1:p.Leu348ArgfsTer19
XM_006719963.3:c.878del	XP_006720026.2:p.Leu293ArgfsTer19
XM_011537474.2:c.1127del	XP_011535776.2:p.Leu376ArgfsTer19
XM_011537475.2:c.941del	XP_011535777.2:p.Leu314ArgfsTer19
XM_011537476.2:c.734del	XP_011535778.1:p.Leu245ArgfsTer19
NM_019616.4:c.974del MANE Select	NP_062562.1:p.Leu325ArgfsTer19
NR_051961.2:n.1058del
NM_001267554.2:c.788del	NP_001254483.1:p.Leu263ArgfsTer19