Canonical Allele Identifier: CA256462391

Gene: F7

Linked Data

• dbSNP Id: rs36209570
• gnomAD v2: 13-113773802-CAG-C
• gnomAD v3: 13-113119488-CAG-C
• gnomAD v4: 13-113119488-CAG-C
• MyVariant Identifiers: chr13:g.113773803_113773804del (hg19) ; chr13:g.113119489_113119490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119492_113119493del , CM000675.2:g.113119492_113119493del	GRCh38
NC_000013.10:g.113773806_113773807del , CM000675.1:g.113773806_113773807del	GRCh37
NC_000013.9:g.112821807_112821808del	NCBI36
NG_009258.1:g.1694_1695del , LRG_548:g.1694_1695del
NG_009262.1:g.18702_18703del , LRG_554:g.18702_18703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.*484_*485del MANE Select	ENSP00000329546.4:n.*484_*485del
ENST00000346342.7:c.*484_*485del	ENSP00000329546.3:n.*484_*485del
ENST00000375581.3:c.*484_*485del	ENSP00000364731.3:n.*484_*485del
ENST00000541084.5:c.*484_*485del	ENSP00000442051.2:n.*484_*485del
NM_000131.4:c.*484_*485del , LRG_554t1:c.*484_*485del	NP_000122.1:n.*484_*485del
NM_001267554.1:c.*484_*485del	NP_001254483.1:n.*484_*485del
NM_019616.3:c.*484_*485del , LRG_554t2:c.*484_*485del	NP_062562.1:n.*484_*485del
NR_051961.1:n.1906_1907del
XM_006719963.2:c.*484_*485del	XP_006720026.1:n.*484_*485del
XM_011537474.1:c.*484_*485del	XP_011535776.1:n.*484_*485del
XM_011537475.1:c.*484_*485del	XP_011535777.1:n.*484_*485del
XM_011537476.1:c.*484_*485del	XP_011535778.1:n.*484_*485del
XM_011537477.1:c.*484_*485del	XP_011535779.1:n.*484_*485del
XM_006719963.3:c.*484_*485del	XP_006720026.2:n.*484_*485del
XM_011537474.2:c.*484_*485del	XP_011535776.2:n.*484_*485del
XM_011537475.2:c.*484_*485del	XP_011535777.2:n.*484_*485del
XM_011537476.2:c.*484_*485del	XP_011535778.1:n.*484_*485del
NM_019616.4:c.*484_*485del MANE Select	NP_062562.1:n.*484_*485del
NR_051961.2:n.1903_1904del
NM_001267554.2:c.*484_*485del	NP_001254483.1:n.*484_*485del