Canonical Allele Identifier: CA625946588

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1328062477
• gnomAD v2: 17-38028683-CCATT-C
• gnomAD v4: 17-39872430-CCATT-C
• MyVariant Identifiers: chr17:g.38028684_38028687del (hg19) ; chr17:g.39872431_39872434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872432_39872435del , CM000679.2:g.39872432_39872435del	GRCh38
NC_000017.10:g.38028685_38028688del , CM000679.1:g.38028685_38028688del	GRCh37
NC_000017.9:g.35282211_35282214del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.569_572del MANE Select	ENSP00000335384.5:p.His190LeufsTer15
ENST00000348931.8:c.569_572del	ENSP00000335384.5:p.His190LeufsTer15
ENST00000377940.3:c.503_506del	ENSP00000367174.3:p.His168LeufsTer15
ENST00000583811.5:c.215_218del	ENSP00000462463.1:p.His72LeufsTer15
ENST00000584588.5:c.407-612_407-609del	ENSP00000462067.1:n.407-612_407-609del
NM_198844.2:c.503_506del	NP_942141.2:p.His168LeufsTer15
NM_199321.2:c.569_572del	NP_955353.1:p.His190LeufsTer15
XM_011524298.1:c.569_572del	XP_011522600.1:p.His190LeufsTer15
XR_002957959.1:n.760_763del
NM_198844.3:c.503_506del	NP_942141.2:p.His168LeufsTer15
NM_199321.3:c.569_572del MANE Select	NP_955353.1:p.His190LeufsTer15