Canonical Allele Identifier: CA2671365410

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008469-ACCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008471_88008474del , CM000666.2:g.88008471_88008474del	GRCh38
NC_000004.11:g.88929623_88929626del , CM000666.1:g.88929623_88929626del	GRCh37
NC_000004.10:g.89148647_89148650del	NCBI36
NG_008604.1:g.5804_5807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+143_595+146del MANE Select	ENSP00000237596.2:n.595+143_595+146del
ENST00000237596.6:c.595+143_595+146del	ENSP00000237596.2:n.595+143_595+146del
ENST00000506727.1:n.97+143_97+146del
NM_000297.3:c.595+143_595+146del	NP_000288.1:n.595+143_595+146del
XM_011532028.1:c.595+143_595+146del	XP_011530330.1:n.595+143_595+146del
XR_244632.2:n.690+143_690+146del
NR_156488.1:n.682+143_682+146del
XM_011532028.2:c.595+143_595+146del	XP_011530330.1:n.595+143_595+146del
NM_000297.4:c.595+143_595+146del MANE Select	NP_000288.1:n.595+143_595+146del
NR_156488.2:n.694+143_694+146del