Canonical Allele Identifier: CA2762538028

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043455_88043457del , CM000666.2:g.88043455_88043457del	GRCh38
NC_000004.11:g.88964607_88964609del , CM000666.1:g.88964607_88964609del	GRCh37
NC_000004.10:g.89183631_89183633del	NCBI36
NG_008604.1:g.40788_40790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1317_1319del MANE Select	ENSP00000237596.2:p.Arg440del
ENST00000237596.6:c.1317_1319del	ENSP00000237596.2:p.Arg440del
ENST00000508588.5:c.-201_-199del	ENSP00000427131.1:n.-201_-199del
NM_000297.3:c.1317_1319del	NP_000288.1:p.Arg440del
XM_011532028.1:c.1095-3187_1095-3185del	XP_011530330.1:n.1095-3187_1095-3185del
XM_011532029.1:c.597_599del	XP_011530331.1:p.Arg200del
XM_011532030.1:c.477_479del	XP_011530332.1:p.Arg160del
XR_244632.2:n.1412_1414del
NR_156488.1:n.1404_1406del
XM_011532028.2:c.1095-3187_1095-3185del	XP_011530330.1:n.1095-3187_1095-3185del
XM_011532030.2:c.477_479del	XP_011530332.1:p.Arg160del
NM_000297.4:c.1317_1319del MANE Select	NP_000288.1:p.Arg440del
NR_156488.2:n.1416_1418del