Canonical Allele Identifier: CA1065142908

Gene: PKD2

Linked Data

• dbSNP Id: rs1661342466
• gnomAD v3: 4-88008551-CCTT-C
• gnomAD v4: 4-88008551-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008556_88008558del , CM000666.2:g.88008556_88008558del	GRCh38
NC_000004.11:g.88929708_88929710del , CM000666.1:g.88929708_88929710del	GRCh37
NC_000004.10:g.89148732_89148734del	NCBI36
NG_008604.1:g.5889_5891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+228_595+230del MANE Select	ENSP00000237596.2:n.595+228_595+230del
ENST00000237596.6:c.595+228_595+230del	ENSP00000237596.2:n.595+228_595+230del
ENST00000506727.1:n.97+228_97+230del
NM_000297.3:c.595+228_595+230del	NP_000288.1:n.595+228_595+230del
XM_011532028.1:c.595+228_595+230del	XP_011530330.1:n.595+228_595+230del
XR_244632.2:n.690+228_690+230del
NR_156488.1:n.682+228_682+230del
XM_011532028.2:c.595+228_595+230del	XP_011530330.1:n.595+228_595+230del
NM_000297.4:c.595+228_595+230del MANE Select	NP_000288.1:n.595+228_595+230del
NR_156488.2:n.694+228_694+230del