Canonical Allele Identifier: CA2637649654

Gene: ZPBP2

Linked Data

• gnomAD v4: 17-39872470-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872471del , CM000679.2:g.39872471del	GRCh38
NC_000017.10:g.38028724del , CM000679.1:g.38028724del	GRCh37
NC_000017.9:g.35282250del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.608del MANE Select	ENSP00000335384.5:p.Leu203HisfsTer3
ENST00000348931.8:c.608del	ENSP00000335384.5:p.Leu203HisfsTer3
ENST00000377940.3:c.542del	ENSP00000367174.3:p.Leu181HisfsTer3
ENST00000583811.5:c.254del	ENSP00000462463.1:p.Leu85HisfsTer3
ENST00000584588.5:c.407-573del	ENSP00000462067.1:n.407-573del
NM_198844.2:c.542del	NP_942141.2:p.Leu181HisfsTer3
NM_199321.2:c.608del	NP_955353.1:p.Leu203HisfsTer3
XM_011524298.1:c.608del	XP_011522600.1:p.Leu203HisfsTer3
XR_002957959.1:n.799del
NM_198844.3:c.542del	NP_942141.2:p.Leu181HisfsTer3
NM_199321.3:c.608del MANE Select	NP_955353.1:p.Leu203HisfsTer3