Canonical Allele Identifier: CA10639061

Gene: F7

Linked Data

• ClinVar Variation Id: 311249
• ClinVar RCV Id: RCV000301013
• dbSNP Id: rs3093252
• gnomAD v2: 13-113774023-GCACA-G
• gnomAD v3: 13-113119709-GCACA-G
• gnomAD v4: 13-113119709-GCACA-G
• MyVariant Identifiers: chr13:g.113774031_113774034del (hg19) ; chr13:g.113774024_113774027del (hg19) ; chr13:g.113119717_113119720del (hg38) ; chr13:g.113119710_113119713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119717_113119720del , CM000675.2:g.113119717_113119720del	GRCh38
NC_000013.10:g.113774031_113774034del , CM000675.1:g.113774031_113774034del	GRCh37
NC_000013.9:g.112822032_112822035del	NCBI36
NG_009258.1:g.1919_1922del , LRG_548:g.1919_1922del
NG_009262.1:g.18927_18930del , LRG_554:g.18927_18930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*709_*712del MANE Select	ENSP00000329546.4:n.*709_*712del
ENST00000346342.7:c.*709_*712del	ENSP00000329546.3:n.*709_*712del
ENST00000375581.3:c.*709_*712del	ENSP00000364731.3:n.*709_*712del
ENST00000541084.5:c.*709_*712del	ENSP00000442051.2:n.*709_*712del
NM_000131.4:c.*709_*712del , LRG_554t1:c.*709_*712del	NP_000122.1:n.*709_*712del
NM_001267554.1:c.*709_*712del	NP_001254483.1:n.*709_*712del
NM_019616.3:c.*709_*712del , LRG_554t2:c.*709_*712del	NP_062562.1:n.*709_*712del
NR_051961.1:n.2131_2134del
XM_006719963.2:c.*709_*712del	XP_006720026.1:n.*709_*712del
XM_011537474.1:c.*709_*712del	XP_011535776.1:n.*709_*712del
XM_011537475.1:c.*709_*712del	XP_011535777.1:n.*709_*712del
XM_011537476.1:c.*709_*712del	XP_011535778.1:n.*709_*712del
XM_011537477.1:c.*709_*712del	XP_011535779.1:n.*709_*712del
XM_006719963.3:c.*709_*712del	XP_006720026.2:n.*709_*712del
XM_011537474.2:c.*709_*712del	XP_011535776.2:n.*709_*712del
XM_011537475.2:c.*709_*712del	XP_011535777.2:n.*709_*712del
XM_011537476.2:c.*709_*712del	XP_011535778.1:n.*709_*712del
NM_019616.4:c.*709_*712del MANE Select	NP_062562.1:n.*709_*712del
NR_051961.2:n.2128_2131del
NM_001267554.2:c.*709_*712del	NP_001254483.1:n.*709_*712del