Canonical Allele Identifier: CA2645099634
Gene: ZMPSTE24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40290878_40290879dup , CM000663.2:g.40290878_40290879dup GRCh38
NC_000001.10:g.40756550_40756551dup , CM000663.1:g.40756550_40756551dup GRCh37
NC_000001.9:g.40529137_40529138dup NCBI36
NG_008695.1:g.37818_37819dup , LRG_212:g.37818_37819dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372759.4:c.1084_1085dup MANE Select ENSP00000361845.3:p.Leu362PhefsTer6
ENST00000674703.1:c.*925_*926dup ENSP00000501674.1:n.*925_*926dup
ENST00000675754.1:c.*826_*827dup ENSP00000502555.1:n.*826_*827dup
ENST00000675937.1:c.*329_*330dup ENSP00000502683.1:n.*329_*330dup
ENST00000372759.3:c.1084_1085dup ENSP00000361845.3:p.Leu362PhefsTer6
ENST00000474142.1:n.234_235dup
NM_005857.4:c.1084_1085dup NP_005848.2:p.Leu362PhefsTer6
XM_011540486.1:c.835_836dup XP_011538788.1:p.Leu279PhefsTer6
XR_001736906.2:n.1471_1472dup
NM_005857.5:c.1084_1085dup MANE Select NP_005848.2:p.Leu362PhefsTer6