Canonical Allele Identifier: CA2695203564

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046662_88046668del , CM000666.2:g.88046662_88046668del	GRCh38
NC_000004.11:g.88967814_88967820del , CM000666.1:g.88967814_88967820del	GRCh37
NC_000004.10:g.89186838_89186844del	NCBI36
NG_008604.1:g.43995_44001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1340_1346del MANE Select	ENSP00000237596.2:p.Ala447ValfsTer3
ENST00000237596.6:c.1340_1346del	ENSP00000237596.2:p.Ala447ValfsTer3
ENST00000508588.5:c.-199+3205_-199+3211del	ENSP00000427131.1:n.-199+3205_-199+3211del
NM_000297.3:c.1340_1346del	NP_000288.1:p.Ala447ValfsTer3
XM_011532028.1:c.1115_1121del	XP_011530330.1:p.Ala372ValfsTer3
XM_011532029.1:c.620_626del	XP_011530331.1:p.Ala207ValfsTer3
XM_011532030.1:c.500_506del	XP_011530332.1:p.Ala167ValfsTer3
XR_244632.2:n.1435_1441del
NR_156488.1:n.1427_1433del
XM_011532028.2:c.1115_1121del	XP_011530330.1:p.Ala372ValfsTer3
XM_011532030.2:c.500_506del	XP_011530332.1:p.Ala167ValfsTer3
NM_000297.4:c.1340_1346del MANE Select	NP_000288.1:p.Ala447ValfsTer3
NR_156488.2:n.1439_1445del