Canonical Allele Identifier: CA129354

Gene: ZMPSTE24

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40258325dup , CM000663.2:g.40258325dup	GRCh38
NC_000001.10:g.40723997dup , CM000663.1:g.40723997dup	GRCh37
NC_000001.9:g.40496584dup	NCBI36
NG_008695.1:g.5265dup , LRG_212:g.5265dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005857.5:c.54dup MANE Select	NP_005848.2:p.Ile19TyrfsTer28
ENST00000372759.4:c.54dup MANE Select	ENSP00000361845.3:p.Ile19TyrfsTer28
NM_005857.4:c.54dup	NP_005848.2:p.Ile19TyrfsTer28
ENST00000372759.3:c.54dup	ENSP00000361845.3:p.Ile19TyrfsTer28
ENST00000472583.1:n.87dup
ENST00000479131.5:n.90dup
ENST00000674703.1:c.54dup	ENSP00000501674.1:p.Ile19TyrfsTer28
ENST00000675754.1:c.54dup	ENSP00000502555.1:p.Ile19TyrfsTer28
ENST00000675937.1:c.54dup	ENSP00000502683.1:p.Ile19TyrfsTer28
XM_011540486.1:c.-346dup	XP_011538788.1:n.-346dup
XM_011540487.1:c.54dup	XP_011538789.1:p.Ile19TyrfsTer28
XR_001736906.2:n.248dup