Canonical Allele Identifier: CA625946258

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1180051045
• gnomAD v2: 17-38025445-TTTAAAA-T
• MyVariant Identifiers: chr17:g.38025446_38025451del (hg19) ; chr17:g.39869193_39869198del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39869197_39869202del , CM000679.2:g.39869197_39869202del	GRCh38
NC_000017.10:g.38025450_38025455del , CM000679.1:g.38025450_38025455del	GRCh37
NC_000017.9:g.35278976_35278981del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.118+583_118+588del MANE Select	ENSP00000335384.5:n.118+583_118+588del
ENST00000348931.8:c.118+583_118+588del	ENSP00000335384.5:n.118+583_118+588del
ENST00000377940.3:c.52+791_52+796del	ENSP00000367174.3:n.52+791_52+796del
ENST00000583811.5:c.52+791_52+796del	ENSP00000462463.1:n.52+791_52+796del
ENST00000584588.5:c.118+583_118+588del	ENSP00000462067.1:n.118+583_118+588del
NM_198844.2:c.52+791_52+796del	NP_942141.2:n.52+791_52+796del
NM_199321.2:c.118+583_118+588del	NP_955353.1:n.118+583_118+588del
XM_011524298.1:c.118+583_118+588del	XP_011522600.1:n.118+583_118+588del
XR_002957959.1:n.309+583_309+588del
NM_198844.3:c.52+791_52+796del	NP_942141.2:n.52+791_52+796del
NM_199321.3:c.118+583_118+588del MANE Select	NP_955353.1:n.118+583_118+588del