Canonical Allele Identifier: CA117953
Gene: MOCS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6117
ClinVar RCV Id: RCV000006491
dbSNP Id: rs397518418

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.39913352del , CM000668.2:g.39913352del GRCh38
NC_000006.11:g.39881096del , CM000668.1:g.39881096del GRCh37
NC_000006.10:g.39989074del NCBI36
NG_009297.1:g.26159del

Transcript Alleles

HGVS Amino-acid change
ENST00000340692.10:c.722del MANE Select ENSP00000344794.5:p.Leu241ArgfsTer6
ENST00000645522.1:n.860del
ENST00000340692.9:c.722del ENSP00000344794.5:p.Leu241ArgfsTer6
ENST00000373181.8:c.461del ENSP00000362277.4:p.Leu154ArgfsTer6
ENST00000373186.8:c.722del ENSP00000362282.4:p.Leu241ArgfsTer6
ENST00000373188.6:c.722del ENSP00000362284.2:p.Leu241ArgfsTer6
ENST00000373195.7:c.461del ENSP00000362291.3:p.Leu154ArgfsTer6
ENST00000425303.6:c.722del ENSP00000416478.2:p.Leu241ArgfsTer6
ENST00000432280.2:c.635del ENSP00000410809.2:p.Leu212ArgfsTer6
NM_001075098.3:c.722del NP_001068566.1:p.Leu241ArgfsTer6
NM_005943.5:c.722del NP_005934.2:p.Leu241ArgfsTer6
NR_033233.1:n.729del
XM_011514632.1:c.722del XP_011512934.1:p.Leu241ArgfsTer6
XM_011514633.1:c.722del XP_011512935.1:p.Leu241ArgfsTer6
XM_011514634.1:c.461del XP_011512936.1:p.Leu154ArgfsTer6
XM_011514635.1:c.722del XP_011512937.1:p.Leu241ArgfsTer6
XR_926225.1:n.767del
NM_001358529.1:c.722del NP_001345458.1:p.Leu241ArgfsTer6
NM_001358530.1:c.722del NP_001345459.1:p.Leu241ArgfsTer6
NM_001358531.1:c.461del NP_001345460.1:p.Leu154ArgfsTer6
NM_001358533.1:c.461del NP_001345462.1:p.Leu154ArgfsTer6
NM_001358534.1:c.461del NP_001345463.1:p.Leu154ArgfsTer6
NM_001358530.2:c.722del MANE Select NP_001345459.1:p.Leu241ArgfsTer6
NM_001075098.4:c.722del NP_001068566.1:p.Leu241ArgfsTer6
NM_001358529.2:c.722del NP_001345458.1:p.Leu241ArgfsTer6
NM_001358531.2:c.461del NP_001345460.1:p.Leu154ArgfsTer6
NM_001358533.2:c.461del NP_001345462.1:p.Leu154ArgfsTer6
NR_033233.2:n.640del
NM_001358534.2:c.461del NP_001345463.1:p.Leu154ArgfsTer6
NM_005943.6:c.722del NP_005934.2:p.Leu241ArgfsTer6