Canonical Allele Identifier: CA2695203544

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038387_88038388del , CM000666.2:g.88038387_88038388del	GRCh38
NC_000004.11:g.88959539_88959540del , CM000666.1:g.88959539_88959540del	GRCh37
NC_000004.10:g.89178563_89178564del	NCBI36
NG_008604.1:g.35720_35721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.980_981del MANE Select	ENSP00000237596.2:p.Arg327LysfsTer13
ENST00000237596.6:c.980_981del	ENSP00000237596.2:p.Arg327LysfsTer13
ENST00000506367.1:n.427_428del
NM_000297.3:c.980_981del	NP_000288.1:p.Arg327LysfsTer13
XM_011532028.1:c.980_981del	XP_011530330.1:p.Arg327LysfsTer13
XM_011532029.1:c.260_261del	XP_011530331.1:p.Arg87LysfsTer13
XM_011532030.1:c.140_141del	XP_011530332.1:p.Arg47LysfsTer13
XR_244632.2:n.1075_1076del
NR_156488.1:n.1067_1068del
XM_011532028.2:c.980_981del	XP_011530330.1:p.Arg327LysfsTer13
XM_011532030.2:c.140_141del	XP_011530332.1:p.Arg47LysfsTer13
NM_000297.4:c.980_981del MANE Select	NP_000288.1:p.Arg327LysfsTer13
NR_156488.2:n.1079_1080del