Canonical Allele Identifier: CA791166
Gene: ZMPSTE24 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.40290871del
GRCh37 chr1:g.40756543del
gnomAD v2:
1:40756542 GT / G
gnomAD v3:
1:40290870 GT / G
gnomAD v4:
chr1-40290870-GT-G
Joint Max Group AF 0.00000746 (EAS)
Genomes Max Group AF 0.00000807 (AFR)
Exomes Max Group AF 0.00000843 (EAS)
ClinVar RCV:
RCV001889967
ClinVar Variation:
1377698
dbSNP:
137854889
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40290879del , CM000663.2:g.40290879del GRCh38
NC_000001.10:g.40756551del , CM000663.1:g.40756551del GRCh37
NC_000001.9:g.40529138del NCBI36
NG_008695.1:g.37819del , LRG_212:g.37819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372759.4:c.1085del MANE Select ENSP00000361845.3:p.Leu362TyrfsTer5
ENST00000674703.1:c.*926del ENSP00000501674.1:n.*926del
ENST00000675754.1:c.*827del ENSP00000502555.1:n.*827del
ENST00000675937.1:c.*330del ENSP00000502683.1:n.*330del
ENST00000372759.3:c.1085del ENSP00000361845.3:p.Leu362TyrfsTer5
ENST00000474142.1:n.235del
NM_005857.4:c.1085del NP_005848.2:p.Leu362TyrfsTer5
XM_011540486.1:c.836del XP_011538788.1:p.Leu279TyrfsTer5
XR_001736906.2:n.1472del
NM_005857.5:c.1085del MANE Select NP_005848.2:p.Leu362TyrfsTer5
Search 100 bp 5'
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