Canonical Allele Identifier: CA2623803537

Gene: F7

Linked Data

• gnomAD v4: 13-113113927-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113928del , CM000675.2:g.113113928del	GRCh38
NC_000013.10:g.113768242del , CM000675.1:g.113768242del	GRCh37
NC_000013.9:g.112816243del	NCBI36
NG_009262.1:g.13138del , LRG_554:g.13138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.332del MANE Select	ENSP00000329546.4:p.Leu111ProfsTer17
ENST00000346342.7:c.332del	ENSP00000329546.3:p.Leu111ProfsTer17
ENST00000375581.3:c.398del	ENSP00000364731.3:p.Leu133ProfsTer17
ENST00000444337.1:c.*140del	ENSP00000387669.1:n.*140del
ENST00000473085.1:n.279del
ENST00000479674.1:n.665del
ENST00000541084.5:c.146del	ENSP00000442051.2:p.Leu49ProfsTer17
NM_000131.4:c.398del , LRG_554t1:c.398del	NP_000122.1:p.Leu133ProfsTer17
NM_001267554.1:c.146del	NP_001254483.1:p.Leu49ProfsTer17
NM_019616.3:c.332del , LRG_554t2:c.332del	NP_062562.1:p.Leu111ProfsTer17
NR_051961.1:n.419del
XM_006719963.2:c.332del	XP_006720026.1:p.Leu111ProfsTer22
XM_011537474.1:c.332del	XP_011535776.1:p.Leu111ProfsTer21
XM_011537475.1:c.146del	XP_011535777.1:p.Leu49ProfsTer21
XM_011537477.1:c.293del	XP_011535779.1:p.Leu98ProfsTer21
XM_006719963.3:c.377del	XP_006720026.2:p.Leu126ProfsTer22
XM_011537474.2:c.377del	XP_011535776.2:p.Leu126ProfsTer21
XM_011537475.2:c.191del	XP_011535777.2:p.Leu64ProfsTer21
NM_019616.4:c.332del MANE Select	NP_062562.1:p.Leu111ProfsTer17
NR_051961.2:n.416del
NM_001267554.2:c.146del	NP_001254483.1:p.Leu49ProfsTer17