Canonical Allele Identifier: CA200731
Community Standard Title: NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422CysfsTer8)
Gene: ZMPSTE24 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40292504dup , CM000663.2:g.40292504dup GRCh38
NC_000001.10:g.40758176dup , CM000663.1:g.40758176dup GRCh37
NC_000001.9:g.40530763dup NCBI36
NG_008695.1:g.39444dup , LRG_212:g.39444dup

Transcript Alleles

HGVS Amino-acid Change
NM_005857.5:c.1263dup MANE Select NP_005848.2:p.Ala422CysfsTer8
ENST00000372759.4:c.1263dup MANE Select ENSP00000361845.3:p.Ala422CysfsTer8
NM_005857.4:c.1263dup NP_005848.2:p.Ala422CysfsTer8
ENST00000372759.3:c.1263dup ENSP00000361845.3:p.Ala422CysfsTer8
ENST00000474142.1:n.413dup
ENST00000674703.1:c.*1104dup ENSP00000501674.1:n.*1104dup
ENST00000675754.1:c.*1005dup ENSP00000502555.1:n.*1005dup
ENST00000675937.1:c.*508dup ENSP00000502683.1:n.*508dup
XM_011540486.1:c.1014dup XP_011538788.1:p.Ala339CysfsTer8
XR_001736906.2:n.1650dup
Search 100 bp 5'
Search 100 bp 3'