Canonical Allele Identifier: CA2695203556

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043357del , CM000666.2:g.88043357del	GRCh38
NC_000004.11:g.88964509del , CM000666.1:g.88964509del	GRCh37
NC_000004.10:g.89183533del	NCBI36
NG_008604.1:g.40690del

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1219del MANE Select	ENSP00000237596.2:p.Ala407LeufsTer?
ENST00000237596.6:c.1219del	ENSP00000237596.2:p.Ala407LeufsTer?
ENST00000506367.1:n.666del
ENST00000508588.5:c.-299del	ENSP00000427131.1:n.-299del
NM_000297.3:c.1219del	NP_000288.1:p.Ala407LeufsTer?
XM_011532028.1:c.1095-3285del	XP_011530330.1:n.1095-3285del
XM_011532029.1:c.499del	XP_011530331.1:p.Ala167LeufsTer?
XM_011532030.1:c.379del	XP_011530332.1:p.Ala127LeufsTer?
XR_244632.2:n.1314del
NR_156488.1:n.1306del
XM_011532028.2:c.1095-3285del	XP_011530330.1:n.1095-3285del
XM_011532030.2:c.379del	XP_011530332.1:p.Ala127LeufsTer?
NM_000297.4:c.1219del MANE Select	NP_000288.1:p.Ala407LeufsTer?
NR_156488.2:n.1318del