Canonical Allele Identifier: CA2651911806
Gene: MKKS HGNC NCBI

Linked Data

gnomAD v4: 20-10412603-A-AAACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412604_10412607dup , CM000682.2:g.10412604_10412607dup GRCh38
NC_000020.10:g.10393252_10393255dup , CM000682.1:g.10393252_10393255dup GRCh37
NC_000020.9:g.10341252_10341255dup NCBI36
NG_009109.1:g.26612_26615dup
NG_009109.2:g.26612_26615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.908_911dup ENSP00000498849.1:p.Phe304LeufsTer24
ENST00000652676.1:n.552_555dup
ENST00000347364.7:c.908_911dup MANE Select ENSP00000246062.4:p.Phe304LeufsTer24
ENST00000399054.6:c.908_911dup ENSP00000382008.2:p.Phe304LeufsTer24
NM_018848.3:c.908_911dup NP_061336.1:p.Phe304LeufsTer24
NM_170784.2:c.908_911dup NP_740754.1:p.Phe304LeufsTer24
NR_072977.1:n.364-3804_364-3801dup
NR_072977.2:n.347-3804_347-3801dup
NM_170784.3:c.908_911dup MANE Select NP_740754.1:p.Phe304LeufsTer24
Search 100 bp 5'
Search 100 bp 3'