Canonical Allele Identifier: CA791214

Gene: ZMPSTE24

Linked Data

• dbSNP Id: rs750663722
• ExAC: 1:40758262 GGTT / G
• gnomAD v2: 1-40758262-GGTT-G
• gnomAD v4: 1-40292590-GGTT-G
• MyVariant Identifiers: chr1:g.40758263_40758265del (hg19) ; chr1:g.40292591_40292593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292594_40292596del , CM000663.2:g.40292594_40292596del	GRCh38
NC_000001.10:g.40758266_40758268del , CM000663.1:g.40758266_40758268del	GRCh37
NC_000001.9:g.40530853_40530855del	NCBI36
NG_008695.1:g.39534_39536del , LRG_212:g.39534_39536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1353_1355del MANE Select	ENSP00000361845.3:p.Leu451del
ENST00000674703.1:c.*1194_*1196del	ENSP00000501674.1:n.*1194_*1196del
ENST00000675754.1:c.*1095_*1097del	ENSP00000502555.1:n.*1095_*1097del
ENST00000675937.1:c.*598_*600del	ENSP00000502683.1:n.*598_*600del
ENST00000372759.3:c.1353_1355del	ENSP00000361845.3:p.Leu451del
ENST00000474142.1:n.503_505del
NM_005857.4:c.1353_1355del	NP_005848.2:p.Leu451del
XM_011540486.1:c.1104_1106del	XP_011538788.1:p.Leu368del
XR_001736906.2:n.1740_1742del
NM_005857.5:c.1353_1355del MANE Select	NP_005848.2:p.Leu451del