Canonical Allele Identifier: CA290456087

Gene: ZPBP2

Linked Data

• dbSNP Id: rs376064061
• gnomAD v2: 17-38028911-CTAAT-C
• gnomAD v3: 17-39872658-CTAAT-C
• gnomAD v4: 17-39872658-CTAAT-C
• MyVariant Identifiers: chr17:g.38028912_38028915del (hg19) ; chr17:g.39872659_39872662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872665_39872668del , CM000679.2:g.39872665_39872668del	GRCh38
NC_000017.10:g.38028918_38028921del , CM000679.1:g.38028918_38028921del	GRCh37
NC_000017.9:g.35282444_35282447del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.625+177_625+180del MANE Select	ENSP00000335384.5:n.625+177_625+180del
ENST00000348931.8:c.625+177_625+180del	ENSP00000335384.5:n.625+177_625+180del
ENST00000377940.3:c.559+177_559+180del	ENSP00000367174.3:n.559+177_559+180del
ENST00000583811.5:c.271+177_271+180del	ENSP00000462463.1:n.271+177_271+180del
ENST00000584588.5:c.407-379_407-376del	ENSP00000462067.1:n.407-379_407-376del
NM_198844.2:c.559+177_559+180del	NP_942141.2:n.559+177_559+180del
NM_199321.2:c.625+177_625+180del	NP_955353.1:n.625+177_625+180del
XM_011524298.1:c.625+177_625+180del	XP_011522600.1:n.625+177_625+180del
XR_002957959.1:n.816+177_816+180del
NM_198844.3:c.559+177_559+180del	NP_942141.2:n.559+177_559+180del
NM_199321.3:c.625+177_625+180del MANE Select	NP_955353.1:n.625+177_625+180del