Canonical Allele Identifier: CA2671365239

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008342-ACCCGCAGCGGCAGATGCACGAACCAGAACGGCCGGCGCCGGCCGGGGCCATCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008348_88008400del , CM000666.2:g.88008348_88008400del	GRCh38
NC_000004.11:g.88929500_88929552del , CM000666.1:g.88929500_88929552del	GRCh37
NC_000004.10:g.89148524_89148576del	NCBI36
NG_008604.1:g.5681_5733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+20_595+72del MANE Select	ENSP00000237596.2:n.595+20_595+72del
ENST00000237596.6:c.595+20_595+72del	ENSP00000237596.2:n.595+20_595+72del
ENST00000506727.1:n.97+20_97+72del
NM_000297.3:c.595+20_595+72del	NP_000288.1:n.595+20_595+72del
XM_011532028.1:c.595+20_595+72del	XP_011530330.1:n.595+20_595+72del
XR_244632.2:n.690+20_690+72del
NR_156488.1:n.682+20_682+72del
XM_011532028.2:c.595+20_595+72del	XP_011530330.1:n.595+20_595+72del
NM_000297.4:c.595+20_595+72del MANE Select	NP_000288.1:n.595+20_595+72del
NR_156488.2:n.694+20_694+72del