Canonical Allele Identifier: CA2671365174
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007769-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007772_88007773del , CM000666.2:g.88007772_88007773del GRCh38
NC_000004.11:g.88928924_88928925del , CM000666.1:g.88928924_88928925del GRCh37
NC_000004.10:g.89147948_89147949del NCBI36
NG_008604.1:g.5105_5106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.39_40del MANE Select ENSP00000237596.2:p.Asp14ArgfsTer?
ENST00000237596.6:c.39_40del ENSP00000237596.2:p.Asp14ArgfsTer?
NM_000297.3:c.39_40del NP_000288.1:p.Asp14ArgfsTer?
XM_011532028.1:c.39_40del XP_011530330.1:p.Asp14ArgfsTer?
XR_244632.2:n.134_135del
NR_156488.1:n.126_127del
XM_011532028.2:c.39_40del XP_011530330.1:p.Asp14ArgfsTer?
NM_000297.4:c.39_40del MANE Select NP_000288.1:p.Asp14ArgfsTer?
NR_156488.2:n.138_139del
Search 100 bp 5'
Search 100 bp 3'