Canonical Allele Identifier: CA2695218962

Gene: F7

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113918del , CM000675.2:g.113113918del	GRCh38
NC_000013.10:g.113768232del , CM000675.1:g.113768232del	GRCh37
NC_000013.9:g.112816233del	NCBI36
NG_009262.1:g.13128del , LRG_554:g.13128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.322del MANE Select	ENSP00000329546.4:p.Cys108AlafsTer20
ENST00000346342.7:c.322del	ENSP00000329546.3:p.Cys108AlafsTer20
ENST00000375581.3:c.388del	ENSP00000364731.3:p.Cys130AlafsTer20
ENST00000444337.1:c.*130del	ENSP00000387669.1:n.*130del
ENST00000473085.1:n.269del
ENST00000479674.1:n.655del
ENST00000541084.5:c.136del	ENSP00000442051.2:p.Cys46AlafsTer20
NM_000131.4:c.388del , LRG_554t1:c.388del	NP_000122.1:p.Cys130AlafsTer20
NM_001267554.1:c.136del	NP_001254483.1:p.Cys46AlafsTer20
NM_019616.3:c.322del , LRG_554t2:c.322del	NP_062562.1:p.Cys108AlafsTer20
NR_051961.1:n.409del
XM_006719963.2:c.322del	XP_006720026.1:p.Cys108AlafsTer25
XM_011537474.1:c.322del	XP_011535776.1:p.Cys108AlafsTer24
XM_011537475.1:c.136del	XP_011535777.1:p.Cys46AlafsTer24
XM_011537477.1:c.283del	XP_011535779.1:p.Cys95AlafsTer24
XM_006719963.3:c.367del	XP_006720026.2:p.Cys123AlafsTer25
XM_011537474.2:c.367del	XP_011535776.2:p.Cys123AlafsTer24
XM_011537475.2:c.181del	XP_011535777.2:p.Cys61AlafsTer24
NM_019616.4:c.322del MANE Select	NP_062562.1:p.Cys108AlafsTer20
NR_051961.2:n.406del
NM_001267554.2:c.136del	NP_001254483.1:p.Cys46AlafsTer20