Canonical Allele Identifier: CA1474562440
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008305_88008309delinsAGAGG , CM000666.2:g.88008305_88008309delinsAGAGG GRCh38
NC_000004.11:g.88929457_88929461delinsAGAGG , CM000666.1:g.88929457_88929461delinsAGAGG GRCh37
NC_000004.10:g.89148481_89148485delinsAGAGG NCBI36
NG_008604.1:g.5638_5642delinsAGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.572_576delinsAGAGG MANE Select ENSP00000237596.2:p.Glu191=
ENST00000237596.6:c.572_576delinsAGAGG ENSP00000237596.2:p.Glu191=
ENST00000506727.1:n.74_78delinsAGAGG
NM_000297.3:c.572_576delinsAGAGG NP_000288.1:p.Glu191=
XM_011532028.1:c.572_576delinsAGAGG XP_011530330.1:p.Glu191=
XR_244632.2:n.667_671delinsAGAGG
NR_156488.1:n.659_663delinsAGAGG
XM_011532028.2:c.572_576delinsAGAGG XP_011530330.1:p.Glu191=
NM_000297.4:c.572_576delinsAGAGG MANE Select NP_000288.1:p.Glu191=
NR_156488.2:n.671_675delinsAGAGG
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