Canonical Allele Identifier: CA1474562491
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008381_88008388delinsCGGCCGGG , CM000666.2:g.88008381_88008388delinsCGGCCGGG GRCh38
NC_000004.11:g.88929533_88929540delinsCGGCCGGG , CM000666.1:g.88929533_88929540delinsCGGCCGGG GRCh37
NC_000004.10:g.89148557_89148564delinsCGGCCGGG NCBI36
NG_008604.1:g.5714_5721delinsCGGCCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+53_595+60delinsCGGCCGGG MANE Select ENSP00000237596.2:n.595+53_595+60delinsCGGCCGGG
ENST00000237596.6:c.595+53_595+60delinsCGGCCGGG ENSP00000237596.2:n.595+53_595+60delinsCGGCCGGG
ENST00000506727.1:n.97+53_97+60delinsCGGCCGGG
NM_000297.3:c.595+53_595+60delinsCGGCCGGG NP_000288.1:n.595+53_595+60delinsCGGCCGGG
XM_011532028.1:c.595+53_595+60delinsCGGCCGGG XP_011530330.1:n.595+53_595+60delinsCGGCCGGG
XR_244632.2:n.690+53_690+60delinsCGGCCGGG
NR_156488.1:n.682+53_682+60delinsCGGCCGGG
XM_011532028.2:c.595+53_595+60delinsCGGCCGGG XP_011530330.1:n.595+53_595+60delinsCGGCCGGG
NM_000297.4:c.595+53_595+60delinsCGGCCGGG MANE Select NP_000288.1:n.595+53_595+60delinsCGGCCGGG
NR_156488.2:n.694+53_694+60delinsCGGCCGGG