Canonical Allele Identifier: CA1474579718

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047012_88047016delinsCTAAT , CM000666.2:g.88047012_88047016delinsCTAAT	GRCh38
NC_000004.11:g.88968164_88968168delinsCTAAT , CM000666.1:g.88968164_88968168delinsCTAAT	GRCh37
NC_000004.10:g.89187188_89187192delinsCTAAT	NCBI36
NG_008604.1:g.44345_44349delinsCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+142_1548+146delinsCTAAT MANE Select	ENSP00000237596.2:n.1548+142_1548+146delinsCTAAT
ENST00000237596.6:c.1548+142_1548+146delinsCTAAT	ENSP00000237596.2:n.1548+142_1548+146delinsCTAAT
ENST00000508588.5:c.-199+3555_-199+3559delinsCTAAT	ENSP00000427131.1:n.-199+3555_-199+3559delinsCTAAT
NM_000297.3:c.1548+142_1548+146delinsCTAAT	NP_000288.1:n.1548+142_1548+146delinsCTAAT
XM_011532028.1:c.1323+142_1323+146delinsCTAAT	XP_011530330.1:n.1323+142_1323+146delinsCTAAT
XM_011532029.1:c.828+142_828+146delinsCTAAT	XP_011530331.1:n.828+142_828+146delinsCTAAT
XM_011532030.1:c.708+142_708+146delinsCTAAT	XP_011530332.1:n.708+142_708+146delinsCTAAT
XR_244632.2:n.1643+142_1643+146delinsCTAAT
NR_156488.1:n.1635+142_1635+146delinsCTAAT
XM_011532028.2:c.1323+142_1323+146delinsCTAAT	XP_011530330.1:n.1323+142_1323+146delinsCTAAT
XM_011532030.2:c.708+142_708+146delinsCTAAT	XP_011530332.1:n.708+142_708+146delinsCTAAT
NM_000297.4:c.1548+142_1548+146delinsCTAAT MANE Select	NP_000288.1:n.1548+142_1548+146delinsCTAAT
NR_156488.2:n.1647+142_1647+146delinsCTAAT