Canonical Allele Identifier: CA2815255693
Gene: MKKS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412971_10412972insAAAAAAAA , CM000682.2:g.10412971_10412972insAAAAAAAA GRCh38
NC_000020.10:g.10393619_10393620insAAAAAAAA , CM000682.1:g.10393619_10393620insAAAAAAAA GRCh37
NC_000020.9:g.10341619_10341620insAAAAAAAA NCBI36
NG_009109.1:g.26252_26253insTTTTTTTT
NG_009109.2:g.26252_26253insTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.548_549insTTTTTTTT ENSP00000498849.1:p.Leu183PhefsTer17
ENST00000652676.1:n.459-267_459-266insTTTTTTTT
ENST00000347364.7:c.548_549insTTTTTTTT MANE Select ENSP00000246062.4:p.Leu183PhefsTer17
ENST00000399054.6:c.548_549insTTTTTTTT ENSP00000382008.2:p.Leu183PhefsTer17
NM_018848.3:c.548_549insTTTTTTTT NP_061336.1:p.Leu183PhefsTer17
NM_170784.2:c.548_549insTTTTTTTT NP_740754.1:p.Leu183PhefsTer17
NR_072977.1:n.364-4164_364-4163insTTTTTTTT
NR_072977.2:n.347-4164_347-4163insTTTTTTTT
NM_170784.3:c.548_549insTTTTTTTT MANE Select NP_740754.1:p.Leu183PhefsTer17
Search 100 bp 5'
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