Canonical Allele Identifier: CA1474575841
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88038388_88038391delinsAAAT , CM000666.2:g.88038388_88038391delinsAAAT GRCh38
NC_000004.11:g.88959540_88959543delinsAAAT , CM000666.1:g.88959540_88959543delinsAAAT GRCh37
NC_000004.10:g.89178564_89178567delinsAAAT NCBI36
NG_008604.1:g.35721_35724delinsAAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.981_984delinsAAAT MANE Select ENSP00000237596.2:p.Arg327=
ENST00000237596.6:c.981_984delinsAAAT ENSP00000237596.2:p.Arg327=
ENST00000506367.1:n.428_431delinsAAAT
NM_000297.3:c.981_984delinsAAAT NP_000288.1:p.Arg327=
XM_011532028.1:c.981_984delinsAAAT XP_011530330.1:p.Arg327=
XM_011532029.1:c.261_264delinsAAAT XP_011530331.1:p.Arg87=
XM_011532030.1:c.141_144delinsAAAT XP_011530332.1:p.Arg47=
XR_244632.2:n.1076_1079delinsAAAT
NR_156488.1:n.1068_1071delinsAAAT
XM_011532028.2:c.981_984delinsAAAT XP_011530330.1:p.Arg327=
XM_011532030.2:c.141_144delinsAAAT XP_011530332.1:p.Arg47=
NM_000297.4:c.981_984delinsAAAT MANE Select NP_000288.1:p.Arg327=
NR_156488.2:n.1080_1083delinsAAAT