Canonical Allele Identifier: CA2631092509
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985953-GGGCAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985955_1985959del , CM000678.2:g.1985955_1985959del GRCh38
NC_000016.9:g.2035956_2035960del , CM000678.1:g.2035956_2035960del GRCh37
NC_000016.8:g.1975957_1975961del NCBI36
NG_016288.1:g.6807_6811del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.320_324del ENSP00000455885.1:p.Gly107AlafsTer2
ENST00000248114.7:c.545_549del MANE Select ENSP00000248114.6:p.Gly182AlafsTer2
ENST00000248114.6:c.545_549del ENSP00000248114.6:p.Gly182AlafsTer2
ENST00000565658.1:n.702_706del
ENST00000567719.1:c.320_324del ENSP00000455885.1:p.Gly107AlafsTer2
ENST00000569451.1:c.*18_*22del ENSP00000456432.1:n.*18_*22del
NM_005262.2:c.545_549del NP_005253.3:p.Gly182AlafsTer2
NM_005262.3:c.545_549del MANE Select NP_005253.3:p.Gly182AlafsTer2
Search 100 bp 5'
Search 100 bp 3'