Canonical Allele Identifier: CA2762537694

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046983_88046984del , CM000666.2:g.88046983_88046984del	GRCh38
NC_000004.11:g.88968135_88968136del , CM000666.1:g.88968135_88968136del	GRCh37
NC_000004.10:g.89187159_89187160del	NCBI36
NG_008604.1:g.44316_44317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+113_1548+114del MANE Select	ENSP00000237596.2:n.1548+113_1548+114del
ENST00000237596.6:c.1548+113_1548+114del	ENSP00000237596.2:n.1548+113_1548+114del
ENST00000508588.5:c.-199+3526_-199+3527del	ENSP00000427131.1:n.-199+3526_-199+3527del
NM_000297.3:c.1548+113_1548+114del	NP_000288.1:n.1548+113_1548+114del
XM_011532028.1:c.1323+113_1323+114del	XP_011530330.1:n.1323+113_1323+114del
XM_011532029.1:c.828+113_828+114del	XP_011530331.1:n.828+113_828+114del
XM_011532030.1:c.708+113_708+114del	XP_011530332.1:n.708+113_708+114del
XR_244632.2:n.1643+113_1643+114del
NR_156488.1:n.1635+113_1635+114del
XM_011532028.2:c.1323+113_1323+114del	XP_011530330.1:n.1323+113_1323+114del
XM_011532030.2:c.708+113_708+114del	XP_011530332.1:n.708+113_708+114del
NM_000297.4:c.1548+113_1548+114del MANE Select	NP_000288.1:n.1548+113_1548+114del
NR_156488.2:n.1647+113_1647+114del