Canonical Allele Identifier: CA2671365392

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008458-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008459del , CM000666.2:g.88008459del	GRCh38
NC_000004.11:g.88929611del , CM000666.1:g.88929611del	GRCh37
NC_000004.10:g.89148635del	NCBI36
NG_008604.1:g.5792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+131del MANE Select	ENSP00000237596.2:n.595+131del
ENST00000237596.6:c.595+131del	ENSP00000237596.2:n.595+131del
ENST00000506727.1:n.97+131del
NM_000297.3:c.595+131del	NP_000288.1:n.595+131del
XM_011532028.1:c.595+131del	XP_011530330.1:n.595+131del
XR_244632.2:n.690+131del
NR_156488.1:n.682+131del
XM_011532028.2:c.595+131del	XP_011530330.1:n.595+131del
NM_000297.4:c.595+131del MANE Select	NP_000288.1:n.595+131del
NR_156488.2:n.694+131del