Canonical Allele Identifier: CA1474562027

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007638_88007667delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT , CM000666.2:g.88007638_88007667delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT	GRCh38
NC_000004.11:g.88928790_88928819delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT , CM000666.1:g.88928790_88928819delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT	GRCh37
NC_000004.10:g.89147814_89147843delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT	NCBI36
NG_008604.1:g.4971_5000delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.-96_-67delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT MANE Select	ENSP00000237596.2:n.-96_-67delinsCGGCGGCGGGCGCCGGGAAGAAAGGAAC...
NM_000297.4:c.-96_-67delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT MANE Select	NP_000288.1:n.-96_-67delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT
NR_156488.2:n.4_33delinsCGGCGGCGGGCGCCGGGAAGAAAGGAACAT