Canonical Allele Identifier: CA799593908

Gene: PKD2

Linked Data

• dbSNP Id: rs1288269301
• MyVariant Identifiers: chr4:g.88929484_88929485del (hg19) ; chr4:g.88008332_88008333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008334_88008335del , CM000666.2:g.88008334_88008335del	GRCh38
NC_000004.11:g.88929486_88929487del , CM000666.1:g.88929486_88929487del	GRCh37
NC_000004.10:g.89148510_89148511del	NCBI36
NG_008604.1:g.5667_5668del

Transcript Alleles

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