Canonical Allele Identifier: CA2349780873
Gene: MKKS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412921_10412923delinsCTT , CM000682.2:g.10412921_10412923delinsCTT GRCh38
NC_000020.10:g.10393569_10393571delinsCTT , CM000682.1:g.10393569_10393571delinsCTT GRCh37
NC_000020.9:g.10341569_10341571delinsCTT NCBI36
NG_009109.1:g.26296_26298delinsAAG
NG_009109.2:g.26296_26298delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.592_594delinsAAG ENSP00000498849.1:p.Lys198=
ENST00000652676.1:n.459-223_459-221delinsAAG
ENST00000347364.7:c.592_594delinsAAG MANE Select ENSP00000246062.4:p.Lys198=
ENST00000399054.6:c.592_594delinsAAG ENSP00000382008.2:p.Lys198=
NM_018848.3:c.592_594delinsAAG NP_061336.1:p.Lys198=
NM_170784.2:c.592_594delinsAAG NP_740754.1:p.Lys198=
NR_072977.1:n.364-4120_364-4118delinsAAG
NR_072977.2:n.347-4120_347-4118delinsAAG
NM_170784.3:c.592_594delinsAAG MANE Select NP_740754.1:p.Lys198=
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