Canonical Allele Identifier: CA2651912491
Gene: MKKS HGNC NCBI

Linked Data

gnomAD v4: 20-10412961-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412962dup , CM000682.2:g.10412962dup GRCh38
NC_000020.10:g.10393610dup , CM000682.1:g.10393610dup GRCh37
NC_000020.9:g.10341610dup NCBI36
NG_009109.1:g.26257dup
NG_009109.2:g.26257dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.553dup ENSP00000498849.1:p.Thr185AsnfsTer7
ENST00000652676.1:n.459-262dup
ENST00000347364.7:c.553dup MANE Select ENSP00000246062.4:p.Thr185AsnfsTer7
ENST00000399054.6:c.553dup ENSP00000382008.2:p.Thr185AsnfsTer7
NM_018848.3:c.553dup NP_061336.1:p.Thr185AsnfsTer7
NM_170784.2:c.553dup NP_740754.1:p.Thr185AsnfsTer7
NR_072977.1:n.364-4159dup
NR_072977.2:n.347-4159dup
NM_170784.3:c.553dup MANE Select NP_740754.1:p.Thr185AsnfsTer7
Search 100 bp 5'
Search 100 bp 3'