Canonical Allele Identifier: CA2120143160

Gene: F7

Linked Data

• dbSNP Id: rs2036252727

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119007_113119020del , CM000675.2:g.113119007_113119020del	GRCh38
NC_000013.10:g.113773321_113773334del , CM000675.1:g.113773321_113773334del	GRCh37
NC_000013.9:g.112821322_112821335del	NCBI36
NG_009258.1:g.1209_1222del , LRG_548:g.1209_1222del
NG_009262.1:g.18217_18230del , LRG_554:g.18217_18230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1334_*12del MANE Select	ENSP00000329546.4:n.[c.1334_*12del;Ter445TrpextTer?]
ENST00000346342.7:c.1334_*12del	ENSP00000329546.3:n.[c.1334_*12del;Ter445TrpextTer?]
ENST00000375581.3:c.1400_*12del	ENSP00000364731.3:n.[c.1400_*12del;Ter467TrpextTer?]
ENST00000541084.5:c.1148_*12del	ENSP00000442051.2:n.[c.1148_*12del;Ter383TrpextTer?]
NM_000131.4:c.1400_*12del , LRG_554t1:c.1400_*12del	NP_000122.1:n.[c.1400_*12del;Ter467TrpextTer?]
NM_001267554.1:c.1148_*12del	NP_001254483.1:n.[c.1148_*12del;Ter383TrpextTer?]
NM_019616.3:c.1334_*12del , LRG_554t2:c.1334_*12del	NP_062562.1:n.[c.1334_*12del;Ter445TrpextTer?]
NR_051961.1:n.1421_1434del
XM_006719963.2:c.1193_*12del	XP_006720026.1:n.[c.1193_*12del;Ter398TrpextTer?]
XM_011537474.1:c.1442_*12del	XP_011535776.1:n.[c.1442_*12del;Ter481TrpextTer?]
XM_011537475.1:c.1256_*12del	XP_011535777.1:n.[c.1256_*12del;Ter419TrpextTer?]
XM_011537476.1:c.1094_*12del	XP_011535778.1:n.[c.1094_*12del;Ter365TrpextTer?]
XM_011537477.1:c.1403_*12del	XP_011535779.1:n.[c.1403_*12del;Ter468TrpextTer?]
XM_006719963.3:c.1238_*12del	XP_006720026.2:n.[c.1238_*12del;Ter413TrpextTer?]
XM_011537474.2:c.1487_*12del	XP_011535776.2:n.[c.1487_*12del;Ter496TrpextTer?]
XM_011537475.2:c.1301_*12del	XP_011535777.2:n.[c.1301_*12del;Ter434TrpextTer?]
XM_011537476.2:c.1094_*12del	XP_011535778.1:n.[c.1094_*12del;Ter365TrpextTer?]
NM_019616.4:c.1334_*12del MANE Select	NP_062562.1:n.[c.1334_*12del;Ter445TrpextTer?]
NR_051961.2:n.1418_1431del
NM_001267554.2:c.1148_*12del	NP_001254483.1:n.[c.1148_*12del;Ter383TrpextTer?]