Canonical Allele Identifier: CA2637649650

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872401-TGCCATGTCATAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872407_39872419del , CM000679.2:g.39872407_39872419del	GRCh38
NC_000017.10:g.38028660_38028672del , CM000679.1:g.38028660_38028672del	GRCh37
NC_000017.9:g.35282186_35282198del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.544_556del MANE Select	ENSP00000335384.5:p.Val182HisfsTer20
ENST00000348931.8:c.544_556del	ENSP00000335384.5:p.Val182HisfsTer20
ENST00000377940.3:c.478_490del	ENSP00000367174.3:p.Val160HisfsTer20
ENST00000583811.5:c.190_202del	ENSP00000462463.1:p.Val64HisfsTer20
ENST00000584588.5:c.407-637_407-625del	ENSP00000462067.1:n.407-637_407-625del
NM_198844.2:c.478_490del	NP_942141.2:p.Val160HisfsTer20
NM_199321.2:c.544_556del	NP_955353.1:p.Val182HisfsTer20
XM_011524298.1:c.544_556del	XP_011522600.1:p.Val182HisfsTer20
XR_002957959.1:n.735_747del
NM_198844.3:c.478_490del	NP_942141.2:p.Val160HisfsTer20
NM_199321.3:c.544_556del MANE Select	NP_955353.1:p.Val182HisfsTer20