Canonical Allele Identifier: CA2830782649

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038427_88038429del , CM000666.2:g.88038427_88038429del	GRCh38
NC_000004.11:g.88959579_88959581del , CM000666.1:g.88959579_88959581del	GRCh37
NC_000004.10:g.89178603_89178605del	NCBI36
NG_008604.1:g.35760_35762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1020_1022del MANE Select	ENSP00000237596.2:p.Glu340_Ile341delinsAsp
ENST00000237596.6:c.1020_1022del	ENSP00000237596.2:p.Glu340_Ile341delinsAsp
ENST00000506367.1:n.467_469del
NM_000297.3:c.1020_1022del	NP_000288.1:p.Glu340_Ile341delinsAsp
XM_011532028.1:c.1020_1022del	XP_011530330.1:p.Glu340_Ile341delinsAsp
XM_011532029.1:c.300_302del	XP_011530331.1:p.Glu100_Ile101delinsAsp
XM_011532030.1:c.180_182del	XP_011530332.1:p.Glu60_Ile61delinsAsp
XR_244632.2:n.1115_1117del
NR_156488.1:n.1107_1109del
XM_011532028.2:c.1020_1022del	XP_011530330.1:p.Glu340_Ile341delinsAsp
XM_011532030.2:c.180_182del	XP_011530332.1:p.Glu60_Ile61delinsAsp
NM_000297.4:c.1020_1022del MANE Select	NP_000288.1:p.Glu340_Ile341delinsAsp
NR_156488.2:n.1119_1121del