Canonical Allele Identifier: CA1474575786

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038259_88038275delinsAGGCTCCTTATTGGATG , CM000666.2:g.88038259_88038275delinsAGGCTCCTTATTGGATG	GRCh38
NC_000004.11:g.88959411_88959427delinsAGGCTCCTTATTGGATG , CM000666.1:g.88959411_88959427delinsAGGCTCCTTATTGGATG	GRCh37
NC_000004.10:g.89178435_89178451delinsAGGCTCCTTATTGGATG	NCBI36
NG_008604.1:g.35592_35608delinsAGGCTCCTTATTGGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.852_868delinsAGGCTCCTTATTGGATG MANE Select	ENSP00000237596.2:p.Glu284=
ENST00000237596.6:c.852_868delinsAGGCTCCTTATTGGATG	ENSP00000237596.2:p.Glu284=
ENST00000506367.1:n.299_315delinsAGGCTCCTTATTGGATG
ENST00000506727.1:n.438_454delinsAGGCTCCTTATTGGATG
NM_000297.3:c.852_868delinsAGGCTCCTTATTGGATG	NP_000288.1:p.Glu284=
XM_011532028.1:c.852_868delinsAGGCTCCTTATTGGATG	XP_011530330.1:p.Glu284=
XM_011532029.1:c.132_148delinsAGGCTCCTTATTGGATG	XP_011530331.1:p.Glu44=
XM_011532030.1:c.12_28delinsAGGCTCCTTATTGGATG	XP_011530332.1:p.Glu4=
XR_244632.2:n.947_963delinsAGGCTCCTTATTGGATG
NR_156488.1:n.939_955delinsAGGCTCCTTATTGGATG
XM_011532028.2:c.852_868delinsAGGCTCCTTATTGGATG	XP_011530330.1:p.Glu284=
XM_011532030.2:c.12_28delinsAGGCTCCTTATTGGATG	XP_011530332.1:p.Glu4=
NM_000297.4:c.852_868delinsAGGCTCCTTATTGGATG MANE Select	NP_000288.1:p.Glu284=
NR_156488.2:n.951_967delinsAGGCTCCTTATTGGATG