Canonical Allele Identifier: CA2695203578

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046858_88046860del , CM000666.2:g.88046858_88046860del	GRCh38
NC_000004.11:g.88968010_88968012del , CM000666.1:g.88968010_88968012del	GRCh37
NC_000004.10:g.89187034_89187036del	NCBI36
NG_008604.1:g.44191_44193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1536_1538del MANE Select	ENSP00000237596.2:p.Val513del
ENST00000237596.6:c.1536_1538del	ENSP00000237596.2:p.Val513del
ENST00000508588.5:c.-199+3401_-199+3403del	ENSP00000427131.1:n.-199+3401_-199+3403del
NM_000297.3:c.1536_1538del	NP_000288.1:p.Val513del
XM_011532028.1:c.1311_1313del	XP_011530330.1:p.Val438del
XM_011532029.1:c.816_818del	XP_011530331.1:p.Val273del
XM_011532030.1:c.696_698del	XP_011530332.1:p.Val233del
XR_244632.2:n.1631_1633del
NR_156488.1:n.1623_1625del
XM_011532028.2:c.1311_1313del	XP_011530330.1:p.Val438del
XM_011532030.2:c.696_698del	XP_011530332.1:p.Val233del
NM_000297.4:c.1536_1538del MANE Select	NP_000288.1:p.Val513del
NR_156488.2:n.1635_1637del