Canonical Allele Identifier: CA492950250
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035975_2035976del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985975_1985976del , CM000678.2:g.1985975_1985976del GRCh38
NC_000016.9:g.2035976_2035977del , CM000678.1:g.2035976_2035977del GRCh37
NC_000016.8:g.1975977_1975978del NCBI36
NG_016288.1:g.6827_6828del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.340_341del ENSP00000455885.1:p.Ser114LysfsTer4
ENST00000248114.7:c.565_566del MANE Select ENSP00000248114.6:p.Ser189LysfsTer4
ENST00000248114.6:c.565_566del ENSP00000248114.6:p.Ser189LysfsTer4
ENST00000565658.1:n.722_723del
ENST00000567719.1:c.340_341del ENSP00000455885.1:p.Ser114LysfsTer4
ENST00000569451.1:c.*38_*39del ENSP00000456432.1:n.*38_*39del
NM_005262.2:c.565_566del NP_005253.3:p.Ser189LysfsTer4
NM_005262.3:c.565_566del MANE Select NP_005253.3:p.Ser189LysfsTer4
Search 100 bp 5'
Search 100 bp 3'