Canonical Allele Identifier: CA913191025

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 618287
• ClinVar RCV Id: RCV000756495
• dbSNP Id: rs1567159386

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094128_2094161del , CM000678.2:g.2094128_2094161del	GRCh38
NC_000016.9:g.2144129_2144162del , CM000678.1:g.2144129_2144162del	GRCh37
NC_000016.8:g.2084130_2084163del	NCBI36
NG_008617.1:g.49063_49096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10552_10585del (PKD1) MANE Select	ENSP00000262304.4:p.Glu3518AsnfsTer?
ENST00000262304.8:c.10552_10585del (PKD1)	ENSP00000262304.4:p.Glu3518AsnfsTer?
ENST00000423118.5:c.10549_10582del (PKD1)	ENSP00000399501.1:p.Glu3517AsnfsTer?
ENST00000487932.5:c.5114_5147del (PKD1)	ENSP00000457132.1:n.5114_5147del
NM_000296.3:c.10549_10582del (PKD1)	NP_000287.3:p.Glu3517AsnfsTer?
NM_001009944.2:c.10552_10585del (PKD1)	NP_001009944.2:p.Glu3518AsnfsTer?
XM_005255370.2:c.7507_7540del (PKD1)	XP_005255427.1:p.Glu2503AsnfsTer?
XM_011522525.1:c.10630_10663del (PKD1)	XP_011520827.1:p.Glu3544AsnfsTer?
XM_011522526.1:c.10627_10660del (PKD1)	XP_011520828.1:p.Glu3543AsnfsTer?
XM_011522527.1:c.10612_10645del (PKD1)	XP_011520829.1:p.Glu3538AsnfsTer?
XM_011522528.1:c.10606_10639del (PKD1)	XP_011520830.1:p.Glu3536AsnfsTer?
XM_011522529.1:c.10603_10636del (PKD1)	XP_011520831.1:p.Glu3535AsnfsTer?
XM_011522530.1:c.10576_10609del (PKD1)	XP_011520832.1:p.Glu3526AsnfsTer?
XM_011522531.1:c.10558_10591del (PKD1)	XP_011520833.1:p.Glu3520AsnfsTer?
XM_011522532.1:c.10504_10537del (PKD1)	XP_011520834.1:p.Glu3502AsnfsTer?
XM_011522533.1:c.10423_10456del (PKD1)	XP_011520835.1:p.Glu3475AsnfsTer?
XM_011522534.1:c.10366_10399del (PKD1)	XP_011520836.1:p.Glu3456AsnfsTer?
XM_011522535.1:c.8452_8485del (PKD1)	XP_011520837.1:p.Glu2818AsnfsTer?
XM_011522537.1:c.7630_7663del (PKD1)	XP_011520839.1:p.Glu2544AsnfsTer?
XR_932867.1:n.10645_10678del (PKD1)
XR_932868.1:n.10645_10678del (PKD1)
XR_932869.1:n.10645_10678del (PKD1)
XR_932870.1:n.10645_10678del (PKD1)
XR_933000.1:n.214-550_214-517del (PKD1-AS1)
XR_933001.1:n.304-593_304-560del (PKD1-AS1)
XR_933002.1:n.213-550_213-517del (PKD1-AS1)
XR_933003.1:n.213-593_213-560del (PKD1-AS1)
NR_135175.1:n.304-593_304-560del (PKD1-AS1)
XM_005255370.3:c.7507_7540del (PKD1)	XP_005255427.1:p.Glu2503AsnfsTer?
XM_011522528.3:c.10606_10639del (PKD1)	XP_011520830.1:p.Glu3536AsnfsTer?
XM_011522529.2:c.10603_10636del (PKD1)	XP_011520831.1:p.Glu3535AsnfsTer?
XM_011522537.2:c.7630_7663del (PKD1)	XP_011520839.1:p.Glu2544AsnfsTer?
XM_024450298.1:c.10672_10705del (PKD1)	XP_024306066.1:p.Glu3558AsnfsTer?
XM_024450299.1:c.10600_10633del (PKD1)	XP_024306067.1:p.Glu3534AsnfsTer?
XM_024450300.1:c.10462_10495del (PKD1)	XP_024306068.1:p.Glu3488AsnfsTer?
XM_024450301.1:c.8548_8581del (PKD1)	XP_024306069.1:p.Glu2850AsnfsTer?
NM_000296.4:c.10549_10582del (PKD1)	NP_000287.4:p.Glu3517AsnfsTer?
NM_001009944.3:c.10552_10585del (PKD1) MANE Select	NP_001009944.3:p.Glu3518AsnfsTer?