Canonical Allele Identifier: CA492950259
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035977_2035978insAAAA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985977_1985980dup , CM000678.2:g.1985977_1985980dup GRCh38
NC_000016.9:g.2035978_2035981dup , CM000678.1:g.2035978_2035981dup GRCh37
NC_000016.8:g.1975979_1975982dup NCBI36
NG_016288.1:g.6829_6832dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.342_345dup ENSP00000455885.1:p.Val116LysfsTer4
ENST00000248114.7:c.567_570dup MANE Select ENSP00000248114.6:p.Val191LysfsTer4
ENST00000248114.6:c.567_570dup ENSP00000248114.6:p.Val191LysfsTer4
ENST00000565658.1:n.724_727dup
ENST00000567719.1:c.342_345dup ENSP00000455885.1:p.Val116LysfsTer4
ENST00000569451.1:c.*40_*43dup ENSP00000456432.1:n.*40_*43dup
NM_005262.2:c.567_570dup NP_005253.3:p.Val191LysfsTer4
NM_005262.3:c.567_570dup MANE Select NP_005253.3:p.Val191LysfsTer4
Search 100 bp 5'
Search 100 bp 3'