Canonical Allele Identifier: CA919640052
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1567335660
gnomAD v3: 16-1985943-ACC-A
gnomAD v4: 16-1985943-ACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985944_1985945del , CM000678.2:g.1985944_1985945del GRCh38
NC_000016.9:g.2035945_2035946del , CM000678.1:g.2035945_2035946del GRCh37
NC_000016.8:g.1975946_1975947del NCBI36
NG_016288.1:g.6796_6797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.309_310del ENSP00000455885.1:p.Asn103LysfsTer7
ENST00000248114.7:c.534_535del MANE Select ENSP00000248114.6:p.Asn178LysfsTer7
ENST00000248114.6:c.534_535del ENSP00000248114.6:p.Asn178LysfsTer7
ENST00000565658.1:n.691_692del
ENST00000567719.1:c.309_310del ENSP00000455885.1:p.Asn103LysfsTer7
ENST00000569451.1:c.*7_*8del ENSP00000456432.1:n.*7_*8del
NM_005262.2:c.534_535del NP_005253.3:p.Asn178LysfsTer7
NM_005262.3:c.534_535del MANE Select NP_005253.3:p.Asn178LysfsTer7
Search 100 bp 5'
Search 100 bp 3'