Canonical Allele Identifier: CA256458539

Gene: F7

Linked Data

• dbSNP Id: rs886712603
• gnomAD v3: 13-113114147-GGAC-G
• gnomAD v4: 13-113114147-GGAC-G
• MyVariant Identifiers: chr13:g.113768462_113768464del (hg19) ; chr13:g.113114148_113114150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113114148_113114150del , CM000675.2:g.113114148_113114150del	GRCh38
NC_000013.10:g.113768462_113768464del , CM000675.1:g.113768462_113768464del	GRCh37
NC_000013.9:g.112816463_112816465del	NCBI36
NG_009262.1:g.13358_13360del , LRG_554:g.13358_13360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.364+188_364+190del MANE Select	ENSP00000329546.4:n.364+188_364+190del
ENST00000346342.7:c.364+188_364+190del	ENSP00000329546.3:n.364+188_364+190del
ENST00000375581.3:c.430+188_430+190del	ENSP00000364731.3:n.430+188_430+190del
ENST00000444337.1:c.*172+188_*172+190del	ENSP00000387669.1:n.*172+188_*172+190del
ENST00000473085.1:n.311+188_311+190del
ENST00000479674.1:n.697+188_697+190del
ENST00000541084.5:c.178+188_178+190del	ENSP00000442051.2:n.178+188_178+190del
NM_000131.4:c.430+188_430+190del , LRG_554t1:c.430+188_430+190del	NP_000122.1:n.430+188_430+190del
NM_001267554.1:c.178+188_178+190del	NP_001254483.1:n.178+188_178+190del
NM_019616.3:c.364+188_364+190del , LRG_554t2:c.364+188_364+190del	NP_062562.1:n.364+188_364+190del
NR_051961.1:n.451+188_451+190del
XM_006719963.2:c.364+188_364+190del	XP_006720026.1:n.364+188_364+190del
XM_011537474.1:c.364+188_364+190del	XP_011535776.1:n.364+188_364+190del
XM_011537475.1:c.178+188_178+190del	XP_011535777.1:n.178+188_178+190del
XM_011537477.1:c.325+188_325+190del	XP_011535779.1:n.325+188_325+190del
XM_006719963.3:c.409+188_409+190del	XP_006720026.2:n.409+188_409+190del
XM_011537474.2:c.409+188_409+190del	XP_011535776.2:n.409+188_409+190del
XM_011537475.2:c.223+188_223+190del	XP_011535777.2:n.223+188_223+190del
XM_011537476.2:c.-621_-619del	XP_011535778.1:n.-621_-619del
NM_019616.4:c.364+188_364+190del MANE Select	NP_062562.1:n.364+188_364+190del
NR_051961.2:n.448+188_448+190del
NM_001267554.2:c.178+188_178+190del	NP_001254483.1:n.178+188_178+190del