Canonical Allele Identifier: CA2695203557

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043359_88043362del , CM000666.2:g.88043359_88043362del	GRCh38
NC_000004.11:g.88964511_88964514del , CM000666.1:g.88964511_88964514del	GRCh37
NC_000004.10:g.89183535_89183538del	NCBI36
NG_008604.1:g.40692_40695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1221_1224del MANE Select	ENSP00000237596.2:p.Leu409ArgfsTer?
ENST00000237596.6:c.1221_1224del	ENSP00000237596.2:p.Leu409ArgfsTer?
ENST00000506367.1:n.668_671del
ENST00000508588.5:c.-297_-294del	ENSP00000427131.1:n.-297_-294del
NM_000297.3:c.1221_1224del	NP_000288.1:p.Leu409ArgfsTer?
XM_011532028.1:c.1095-3283_1095-3280del	XP_011530330.1:n.1095-3283_1095-3280del
XM_011532029.1:c.501_504del	XP_011530331.1:p.Leu169ArgfsTer?
XM_011532030.1:c.381_384del	XP_011530332.1:p.Leu129ArgfsTer?
XR_244632.2:n.1316_1319del
NR_156488.1:n.1308_1311del
XM_011532028.2:c.1095-3283_1095-3280del	XP_011530330.1:n.1095-3283_1095-3280del
XM_011532030.2:c.381_384del	XP_011530332.1:p.Leu129ArgfsTer?
NM_000297.4:c.1221_1224del MANE Select	NP_000288.1:p.Leu409ArgfsTer?
NR_156488.2:n.1320_1323del