Canonical Allele Identifier: CA2762537005
Gene: PKD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007758_88007759insTGT , CM000666.2:g.88007758_88007759insTGT GRCh38
NC_000004.11:g.88928910_88928911insTGT , CM000666.1:g.88928910_88928911insTGT GRCh37
NC_000004.10:g.89147934_89147935insTGT NCBI36
NG_008604.1:g.5091_5092insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.25_26insTGT MANE Select ENSP00000237596.2:p.Pro9delinsLeuSer
ENST00000237596.6:c.25_26insTGT ENSP00000237596.2:p.Pro9delinsLeuSer
NM_000297.3:c.25_26insTGT NP_000288.1:p.Pro9delinsLeuSer
XM_011532028.1:c.25_26insTGT XP_011530330.1:p.Pro9delinsLeuSer
XR_244632.2:n.120_121insTGT
NR_156488.1:n.112_113insTGT
XM_011532028.2:c.25_26insTGT XP_011530330.1:p.Pro9delinsLeuSer
NM_000297.4:c.25_26insTGT MANE Select NP_000288.1:p.Pro9delinsLeuSer
NR_156488.2:n.124_125insTGT
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