Canonical Allele Identifier: CA2349780945

Gene: MKKS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10413073_10413084delinsGAGTACTACTAA , CM000682.2:g.10413073_10413084delinsGAGTACTACTAA	GRCh38
NC_000020.10:g.10393721_10393732delinsGAGTACTACTAA , CM000682.1:g.10393721_10393732delinsGAGTACTACTAA	GRCh37
NC_000020.9:g.10341721_10341732delinsGAGTACTACTAA	NCBI36
NG_009109.1:g.26135_26146delinsTTAGTAGTACTC
NG_009109.2:g.26135_26146delinsTTAGTAGTACTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000651692.1:c.431_442delinsTTAGTAGTACTC	ENSP00000498849.1:p.Phe144=
ENST00000652676.1:n.459-384_459-373delinsTTAGTAGTACTC
ENST00000347364.7:c.431_442delinsTTAGTAGTACTC MANE Select	ENSP00000246062.4:p.Phe144=
ENST00000399054.6:c.431_442delinsTTAGTAGTACTC	ENSP00000382008.2:p.Phe144=
NM_018848.3:c.431_442delinsTTAGTAGTACTC	NP_061336.1:p.Phe144=
NM_170784.2:c.431_442delinsTTAGTAGTACTC	NP_740754.1:p.Phe144=
NR_072977.1:n.364-4281_364-4270delinsTTAGTAGTACTC
NR_072977.2:n.347-4281_347-4270delinsTTAGTAGTACTC
NM_170784.3:c.431_442delinsTTAGTAGTACTC MANE Select	NP_740754.1:p.Phe144=