Canonical Allele Identifier: CA1474562072
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007684_88007696delinsAGCGCCGAGCGCG , CM000666.2:g.88007684_88007696delinsAGCGCCGAGCGCG GRCh38
NC_000004.11:g.88928836_88928848delinsAGCGCCGAGCGCG , CM000666.1:g.88928836_88928848delinsAGCGCCGAGCGCG GRCh37
NC_000004.10:g.89147860_89147872delinsAGCGCCGAGCGCG NCBI36
NG_008604.1:g.5017_5029delinsAGCGCCGAGCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-50_-38delinsAGCGCCGAGCGCG MANE Select ENSP00000237596.2:n.-50_-38delinsAGCGCCGAGCGCG
ENST00000237596.6:c.-50_-38delinsAGCGCCGAGCGCG ENSP00000237596.2:n.-50_-38delinsAGCGCCGAGCGCG
NM_000297.3:c.-50_-38delinsAGCGCCGAGCGCG NP_000288.1:n.-50_-38delinsAGCGCCGAGCGCG
XM_011532028.1:c.-50_-38delinsAGCGCCGAGCGCG XP_011530330.1:n.-50_-38delinsAGCGCCGAGCGCG
XR_244632.2:n.46_58delinsAGCGCCGAGCGCG
NR_156488.1:n.38_50delinsAGCGCCGAGCGCG
XM_011532028.2:c.-50_-38delinsAGCGCCGAGCGCG XP_011530330.1:n.-50_-38delinsAGCGCCGAGCGCG
NM_000297.4:c.-50_-38delinsAGCGCCGAGCGCG MANE Select NP_000288.1:n.-50_-38delinsAGCGCCGAGCGCG
NR_156488.2:n.50_62delinsAGCGCCGAGCGCG