Canonical Allele Identifier: CA1474579749

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047098_88047100delinsCAA , CM000666.2:g.88047098_88047100delinsCAA	GRCh38
NC_000004.11:g.88968250_88968252delinsCAA , CM000666.1:g.88968250_88968252delinsCAA	GRCh37
NC_000004.10:g.89187274_89187276delinsCAA	NCBI36
NG_008604.1:g.44431_44433delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+228_1548+230delinsCAA MANE Select	ENSP00000237596.2:n.1548+228_1548+230delinsCAA
ENST00000237596.6:c.1548+228_1548+230delinsCAA	ENSP00000237596.2:n.1548+228_1548+230delinsCAA
ENST00000508588.5:c.-199+3641_-199+3643delinsCAA	ENSP00000427131.1:n.-199+3641_-199+3643delinsCAA
NM_000297.3:c.1548+228_1548+230delinsCAA	NP_000288.1:n.1548+228_1548+230delinsCAA
XM_011532028.1:c.1323+228_1323+230delinsCAA	XP_011530330.1:n.1323+228_1323+230delinsCAA
XM_011532029.1:c.828+228_828+230delinsCAA	XP_011530331.1:n.828+228_828+230delinsCAA
XM_011532030.1:c.708+228_708+230delinsCAA	XP_011530332.1:n.708+228_708+230delinsCAA
XR_244632.2:n.1643+228_1643+230delinsCAA
NR_156488.1:n.1635+228_1635+230delinsCAA
XM_011532028.2:c.1323+228_1323+230delinsCAA	XP_011530330.1:n.1323+228_1323+230delinsCAA
XM_011532030.2:c.708+228_708+230delinsCAA	XP_011530332.1:n.708+228_708+230delinsCAA
NM_000297.4:c.1548+228_1548+230delinsCAA MANE Select	NP_000288.1:n.1548+228_1548+230delinsCAA
NR_156488.2:n.1647+228_1647+230delinsCAA