Canonical Allele Identifier: CA2577337692
Gene: MKKS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412921_10412922del , CM000682.2:g.10412921_10412922del GRCh38
NC_000020.10:g.10393569_10393570del , CM000682.1:g.10393569_10393570del GRCh37
NC_000020.9:g.10341569_10341570del NCBI36
NG_009109.1:g.26299_26300del
NG_009109.2:g.26299_26300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.595_596del ENSP00000498849.1:p.Ser199PhefsTer22
ENST00000652676.1:n.459-220_459-219del
ENST00000347364.7:c.595_596del MANE Select ENSP00000246062.4:p.Ser199PhefsTer22
ENST00000399054.6:c.595_596del ENSP00000382008.2:p.Ser199PhefsTer22
NM_018848.3:c.595_596del NP_061336.1:p.Ser199PhefsTer22
NM_170784.2:c.595_596del NP_740754.1:p.Ser199PhefsTer22
NR_072977.1:n.364-4117_364-4116del
NR_072977.2:n.347-4117_347-4116del
NM_170784.3:c.595_596del MANE Select NP_740754.1:p.Ser199PhefsTer22
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