Canonical Allele Identifier: CA5966936
Gene: F2 HGNC NCBI

Linked Data

ExAC: 11:46744835 AGTGAGTGAGGGGCCGGCCTTCCCACCATGGGCTGAGAACAGGGAGCAAGCGTACCTCAAGCCCAACAGCCTCCTGTTGGGCAATTTCCTGTTCCAG / A
gnomAD v2: 11-46744835-AGTGAGTGAGGGGCCGGCCTTCCCACCATGGGCTGAGAACAGGGAGCAAGCGTACCTCAAGCCCAACAGCCTCCTGTTGGGCAATTTCCTGTTCCAG-A
gnomAD v4: 11-46723285-AGTGAGTGAGGGGCCGGCCTTCCCACCATGGGCTGAGAACAGGGAGCAAGCGTACCTCAAGCCCAACAGCCTCCTGTTGGGCAATTTCCTGTTCCAG-A
MyVariant Identifiers: chr11:g.46744836_46744931del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46723286_46723381del , CM000673.2:g.46723286_46723381del GRCh38
NC_000011.9:g.46744836_46744931del , CM000673.1:g.46744836_46744931del GRCh37
NC_000011.8:g.46701412_46701507del NCBI36
NG_008953.1:g.9094_9189del , LRG_551:g.9094_9189del

Transcript Alleles

HGVS Amino-acid change
ENST00000311907.10:c.422+1_423-1del MANE Select ENSP00000308541.5:n.422+1_423-1del
ENST00000311907.9:c.422+1_423-1del ENSP00000308541.5:n.422+1_423-1del
ENST00000442468.1:c.392+1_393-1del ENSP00000387413.1:n.392+1_393-1del
ENST00000490274.1:n.107_202del
ENST00000530231.5:c.422+1_423-1del ENSP00000433907.1:n.422+1_423-1del
NM_000506.3:c.422+1_423-1del NP_000497.1:n.422+1_423-1del
NM_000506.4:c.422+1_423-1del , LRG_551t1:c.422+1_423-1del NP_000497.1:n.422+1_423-1del
NM_001311257.1:c.374+1_375-1del NP_001298186.1:n.374+1_375-1del
XR_428840.2:n.466+1_467-1del
XR_428840.4:n.457+1_458-1del
NM_000506.5:c.422+1_423-1del MANE Select NP_000497.1:n.422+1_423-1del
NM_001311257.2:c.374+1_375-1del NP_001298186.1:n.374+1_375-1del
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