Canonical Allele Identifier: CA983635316

Gene: ZPBP2

Linked Data

• gnomAD v3: 17-39872271-C-CTTTTTT
• gnomAD v4: 17-39872271-C-CTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872272_39872273insTTTTTT , CM000679.2:g.39872272_39872273insTTTTTT	GRCh38
NC_000017.10:g.38028525_38028526insTTTTTT , CM000679.1:g.38028525_38028526insTTTTTT	GRCh37
NC_000017.9:g.35282051_35282052insTTTTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.409_410insTTTTTT MANE Select	ENSP00000335384.5:p.Ala136_Tyr137insPhePhe
ENST00000348931.8:c.409_410insTTTTTT	ENSP00000335384.5:p.Ala136_Tyr137insPhePhe
ENST00000377940.3:c.343_344insTTTTTT	ENSP00000367174.3:p.Ala114_Tyr115insPhePhe
ENST00000583811.5:c.55_56insTTTTTT	ENSP00000462463.1:p.Ala18_Tyr19insPhePhe
ENST00000584588.5:c.406+647_406+648insTTTTTT	ENSP00000462067.1:n.406+647_406+648insTTTTTT
NM_198844.2:c.343_344insTTTTTT	NP_942141.2:p.Ala114_Tyr115insPhePhe
NM_199321.2:c.409_410insTTTTTT	NP_955353.1:p.Ala136_Tyr137insPhePhe
XM_011524298.1:c.409_410insTTTTTT	XP_011522600.1:p.Ala136_Tyr137insPhePhe
XR_002957959.1:n.600_601insTTTTTT
NM_198844.3:c.343_344insTTTTTT	NP_942141.2:p.Ala114_Tyr115insPhePhe
NM_199321.3:c.409_410insTTTTTT MANE Select	NP_955353.1:p.Ala136_Tyr137insPhePhe