Canonical Allele Identifier: CA1474588017

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065551_88065552delinsCT , CM000666.2:g.88065551_88065552delinsCT	GRCh38
NC_000004.11:g.88986703_88986704delinsCT , CM000666.1:g.88986703_88986704delinsCT	GRCh37
NC_000004.10:g.89205727_89205728delinsCT	NCBI36
NG_008604.1:g.62884_62885delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+56_2240+57delinsCT MANE Select	ENSP00000237596.2:n.2240+56_2240+57delinsCT
ENST00000237596.6:c.2240+56_2240+57delinsCT	ENSP00000237596.2:n.2240+56_2240+57delinsCT
ENST00000502363.1:c.494+56_494+57delinsCT	ENSP00000425289.1:n.494+56_494+57delinsCT
ENST00000508588.5:c.494+56_494+57delinsCT	ENSP00000427131.1:n.494+56_494+57delinsCT
ENST00000511337.5:n.492+56_492+57delinsCT
ENST00000512858.1:n.508_509delinsCT
NM_000297.3:c.2240+56_2240+57delinsCT	NP_000288.1:n.2240+56_2240+57delinsCT
XM_011532028.1:c.2015+56_2015+57delinsCT	XP_011530330.1:n.2015+56_2015+57delinsCT
XM_011532029.1:c.1520+56_1520+57delinsCT	XP_011530331.1:n.1520+56_1520+57delinsCT
XM_011532030.1:c.1400+56_1400+57delinsCT	XP_011530332.1:n.1400+56_1400+57delinsCT
NR_156488.1:n.2206+56_2206+57delinsCT
XM_011532028.2:c.2015+56_2015+57delinsCT	XP_011530330.1:n.2015+56_2015+57delinsCT
XM_011532030.2:c.1400+56_1400+57delinsCT	XP_011530332.1:n.1400+56_1400+57delinsCT
NM_000297.4:c.2240+56_2240+57delinsCT MANE Select	NP_000288.1:n.2240+56_2240+57delinsCT
NR_156488.2:n.2218+56_2218+57delinsCT