Canonical Allele Identifier: CA1474562593
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008551_88008554delinsCCTT , CM000666.2:g.88008551_88008554delinsCCTT GRCh38
NC_000004.11:g.88929703_88929706delinsCCTT , CM000666.1:g.88929703_88929706delinsCCTT GRCh37
NC_000004.10:g.89148727_89148730delinsCCTT NCBI36
NG_008604.1:g.5884_5887delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+223_595+226delinsCCTT MANE Select ENSP00000237596.2:n.595+223_595+226delinsCCTT
ENST00000237596.6:c.595+223_595+226delinsCCTT ENSP00000237596.2:n.595+223_595+226delinsCCTT
ENST00000506727.1:n.97+223_97+226delinsCCTT
NM_000297.3:c.595+223_595+226delinsCCTT NP_000288.1:n.595+223_595+226delinsCCTT
XM_011532028.1:c.595+223_595+226delinsCCTT XP_011530330.1:n.595+223_595+226delinsCCTT
XR_244632.2:n.690+223_690+226delinsCCTT
NR_156488.1:n.682+223_682+226delinsCCTT
XM_011532028.2:c.595+223_595+226delinsCCTT XP_011530330.1:n.595+223_595+226delinsCCTT
NM_000297.4:c.595+223_595+226delinsCCTT MANE Select NP_000288.1:n.595+223_595+226delinsCCTT
NR_156488.2:n.694+223_694+226delinsCCTT