Canonical Allele Identifier: CA2349780949
Gene: MKKS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10413079_10413083delinsTACTA , CM000682.2:g.10413079_10413083delinsTACTA GRCh38
NC_000020.10:g.10393727_10393731delinsTACTA , CM000682.1:g.10393727_10393731delinsTACTA GRCh37
NC_000020.9:g.10341727_10341731delinsTACTA NCBI36
NG_009109.1:g.26136_26140delinsTAGTA
NG_009109.2:g.26136_26140delinsTAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000651692.1:c.432_436delinsTAGTA ENSP00000498849.1:p.Phe144=
ENST00000652676.1:n.459-383_459-379delinsTAGTA
ENST00000347364.7:c.432_436delinsTAGTA MANE Select ENSP00000246062.4:p.Phe144=
ENST00000399054.6:c.432_436delinsTAGTA ENSP00000382008.2:p.Phe144=
NM_018848.3:c.432_436delinsTAGTA NP_061336.1:p.Phe144=
NM_170784.2:c.432_436delinsTAGTA NP_740754.1:p.Phe144=
NR_072977.1:n.364-4280_364-4276delinsTAGTA
NR_072977.2:n.347-4280_347-4276delinsTAGTA
NM_170784.3:c.432_436delinsTAGTA MANE Select NP_740754.1:p.Phe144=