Canonical Allele Identifier: CA625946251

Gene: ZPBP2

Linked Data

• dbSNP Id: rs1209575691
• gnomAD v2: 17-38025366-CCTT-C
• gnomAD v3: 17-39869113-CCTT-C
• gnomAD v4: 17-39869113-CCTT-C
• MyVariant Identifiers: chr17:g.38025367_38025369del (hg19) ; chr17:g.39869114_39869116del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39869116_39869118del , CM000679.2:g.39869116_39869118del	GRCh38
NC_000017.10:g.38025369_38025371del , CM000679.1:g.38025369_38025371del	GRCh37
NC_000017.9:g.35278895_35278897del	NCBI36
NG_029104.2:g.73_75del

Transcript Alleles

HGVS	Amino-acid change
ENST00000348931.9:c.118+502_118+504del MANE Select	ENSP00000335384.5:n.118+502_118+504del
ENST00000348931.8:c.118+502_118+504del	ENSP00000335384.5:n.118+502_118+504del
ENST00000377940.3:c.52+710_52+712del	ENSP00000367174.3:n.52+710_52+712del
ENST00000583811.5:c.52+710_52+712del	ENSP00000462463.1:n.52+710_52+712del
ENST00000584588.5:c.118+502_118+504del	ENSP00000462067.1:n.118+502_118+504del
NM_198844.2:c.52+710_52+712del	NP_942141.2:n.52+710_52+712del
NM_199321.2:c.118+502_118+504del	NP_955353.1:n.118+502_118+504del
XM_011524298.1:c.118+502_118+504del	XP_011522600.1:n.118+502_118+504del
XR_002957959.1:n.309+502_309+504del
NM_198844.3:c.52+710_52+712del	NP_942141.2:n.52+710_52+712del
NM_199321.3:c.118+502_118+504del MANE Select	NP_955353.1:n.118+502_118+504del