Canonical Allele Identifier: CA2651911754
Gene: MKKS HGNC NCBI

Linked Data

gnomAD v4: 20-10412578-TGGCA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10412579_10412582del , CM000682.2:g.10412579_10412582del GRCh38
NC_000020.10:g.10393227_10393230del , CM000682.1:g.10393227_10393230del GRCh37
NC_000020.9:g.10341227_10341230del NCBI36
NG_009109.1:g.26637_26640del
NG_009109.2:g.26637_26640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651692.1:c.933_936del ENSP00000498849.1:p.Ala312Ter
ENST00000652676.1:n.577_580del
ENST00000347364.7:c.933_936del MANE Select ENSP00000246062.4:p.Ala312Ter
ENST00000399054.6:c.933_936del ENSP00000382008.2:p.Ala312Ter
NM_018848.3:c.933_936del NP_061336.1:p.Ala312Ter
NM_170784.2:c.933_936del NP_740754.1:p.Ala312Ter
NR_072977.1:n.364-3779_364-3776del
NR_072977.2:n.347-3779_347-3776del
NM_170784.3:c.933_936del MANE Select NP_740754.1:p.Ala312Ter
Search 100 bp 5'
Search 100 bp 3'