Canonical Allele Identifier: CA1474579680

Gene: PKD2

Linked Data

• dbSNP Id: rs1727797566

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046924_88046925insCACAGGCTGCC , CM000666.2:g.88046924_88046925insCACAGGCTGCC	GRCh38
NC_000004.11:g.88968076_88968077insCACAGGCTGCC , CM000666.1:g.88968076_88968077insCACAGGCTGCC	GRCh37
NC_000004.10:g.89187100_89187101insCACAGGCTGCC	NCBI36
NG_008604.1:g.44257_44258insCACAGGCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+54_1548+55insCACAGGCTGCC MANE Select	ENSP00000237596.2:n.1548+54_1548+55insCACAGGCTGCC
ENST00000237596.6:c.1548+54_1548+55insCACAGGCTGCC	ENSP00000237596.2:n.1548+54_1548+55insCACAGGCTGCC
ENST00000508588.5:c.-199+3467_-199+3468insCACAGGCTGCC	ENSP00000427131.1:n.-199+3467_-199+3468insCACAGGCTGCC
NM_000297.3:c.1548+54_1548+55insCACAGGCTGCC	NP_000288.1:n.1548+54_1548+55insCACAGGCTGCC
XM_011532028.1:c.1323+54_1323+55insCACAGGCTGCC	XP_011530330.1:n.1323+54_1323+55insCACAGGCTGCC
XM_011532029.1:c.828+54_828+55insCACAGGCTGCC	XP_011530331.1:n.828+54_828+55insCACAGGCTGCC
XM_011532030.1:c.708+54_708+55insCACAGGCTGCC	XP_011530332.1:n.708+54_708+55insCACAGGCTGCC
XR_244632.2:n.1643+54_1643+55insCACAGGCTGCC
NR_156488.1:n.1635+54_1635+55insCACAGGCTGCC
XM_011532028.2:c.1323+54_1323+55insCACAGGCTGCC	XP_011530330.1:n.1323+54_1323+55insCACAGGCTGCC
XM_011532030.2:c.708+54_708+55insCACAGGCTGCC	XP_011530332.1:n.708+54_708+55insCACAGGCTGCC
NM_000297.4:c.1548+54_1548+55insCACAGGCTGCC MANE Select	NP_000288.1:n.1548+54_1548+55insCACAGGCTGCC
NR_156488.2:n.1647+54_1647+55insCACAGGCTGCC