Canonical Allele Identifier: CA2651912411
Gene: MKKS HGNC NCBI

Linked Data

ClinVar Variation Id: 2676531
ClinVar RCV Id: RCV003470112
gnomAD v4: 20-10412903-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412906del , CM000682.2:g.10412906del GRCh38
NC_000020.10:g.10393554del , CM000682.1:g.10393554del GRCh37
NC_000020.9:g.10341554del NCBI36
NG_009109.1:g.26315del
NG_009109.2:g.26315del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.611del ENSP00000498849.1:p.Leu204Ter
ENST00000652676.1:n.459-204del
ENST00000347364.7:c.611del MANE Select ENSP00000246062.4:p.Leu204Ter
ENST00000399054.6:c.611del ENSP00000382008.2:p.Leu204Ter
NM_018848.3:c.611del NP_061336.1:p.Leu204Ter
NM_170784.2:c.611del NP_740754.1:p.Leu204Ter
NR_072977.1:n.364-4101del
NR_072977.2:n.347-4101del
NM_170784.3:c.611del MANE Select NP_740754.1:p.Leu204Ter
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