Canonical Allele Identifier: CA256462161

Gene: F7

Linked Data

• ClinVar Variation Id: 1229464
• ClinVar RCV Id: RCV001609704
• dbSNP Id: rs3093249
• gnomAD v2: 13-113773476-C-CAA
• gnomAD v3: 13-113119162-C-CAA
• gnomAD v4: 13-113119162-C-CAA
• COSMIC: COSN20111057 ; COSN20111058
• MyVariant Identifiers: chr13:g.113773476_113773477insAA (hg19) ; chr13:g.113119162_113119163insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119163_113119164insAA , CM000675.2:g.113119163_113119164insAA	GRCh38
NC_000013.10:g.113773477_113773478insAA , CM000675.1:g.113773477_113773478insAA	GRCh37
NC_000013.9:g.112821478_112821479insAA	NCBI36
NG_009258.1:g.1365_1366insAA , LRG_548:g.1365_1366insAA
NG_009262.1:g.18373_18374insAA , LRG_554:g.18373_18374insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*155_*156insAA MANE Select	ENSP00000329546.4:n.*155_*156insAA
ENST00000346342.7:c.*155_*156insAA	ENSP00000329546.3:n.*155_*156insAA
ENST00000375581.3:c.*155_*156insAA	ENSP00000364731.3:n.*155_*156insAA
ENST00000541084.5:c.*155_*156insAA	ENSP00000442051.2:n.*155_*156insAA
NM_000131.4:c.*155_*156insAA , LRG_554t1:c.*155_*156insAA	NP_000122.1:n.*155_*156insAA
NM_001267554.1:c.*155_*156insAA	NP_001254483.1:n.*155_*156insAA
NM_019616.3:c.*155_*156insAA , LRG_554t2:c.*155_*156insAA	NP_062562.1:n.*155_*156insAA
NR_051961.1:n.1577_1578insAA
XM_006719963.2:c.*155_*156insAA	XP_006720026.1:n.*155_*156insAA
XM_011537474.1:c.*155_*156insAA	XP_011535776.1:n.*155_*156insAA
XM_011537475.1:c.*155_*156insAA	XP_011535777.1:n.*155_*156insAA
XM_011537476.1:c.*155_*156insAA	XP_011535778.1:n.*155_*156insAA
XM_011537477.1:c.*155_*156insAA	XP_011535779.1:n.*155_*156insAA
XM_006719963.3:c.*155_*156insAA	XP_006720026.2:n.*155_*156insAA
XM_011537474.2:c.*155_*156insAA	XP_011535776.2:n.*155_*156insAA
XM_011537475.2:c.*155_*156insAA	XP_011535777.2:n.*155_*156insAA
XM_011537476.2:c.*155_*156insAA	XP_011535778.1:n.*155_*156insAA
NM_019616.4:c.*155_*156insAA MANE Select	NP_062562.1:n.*155_*156insAA
NR_051961.2:n.1574_1575insAA
NM_001267554.2:c.*155_*156insAA	NP_001254483.1:n.*155_*156insAA