Canonical Allele Identifier: CA658824280

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 562273
• ClinVar RCV Id: RCV000681713
• dbSNP Id: rs1567154939
• MyVariant Identifiers: chr16:g.2142484_2142499del (hg19) ; chr16:g.2092483_2092498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092485_2092500del , CM000678.2:g.2092485_2092500del	GRCh38
NC_000016.9:g.2142486_2142501del , CM000678.1:g.2142486_2142501del	GRCh37
NC_000016.8:g.2082487_2082502del	NCBI36
NG_008617.1:g.50723_50738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.11251_11266del (PKD1) MANE Select	ENSP00000262304.4:p.Gln3751LysfsTer?
ENST00000262304.8:c.11251_11266del (PKD1)	ENSP00000262304.4:p.Gln3751LysfsTer?
ENST00000423118.5:c.11248_11263del (PKD1)	ENSP00000399501.1:p.Gln3750LysfsTer?
ENST00000485120.1:n.100_115del (PKD1)
ENST00000487932.5:c.5813_5828del (PKD1)	ENSP00000457132.1:n.5813_5828del
ENST00000562425.1:c.364_379del (PKD1)
ENST00000567355.1:n.414_429del (PKD1)
NM_000296.3:c.11248_11263del (PKD1)	NP_000287.3:p.Gln3750LysfsTer?
NM_001009944.2:c.11251_11266del (PKD1)	NP_001009944.2:p.Gln3751LysfsTer?
XM_005255370.2:c.8206_8221del (PKD1)	XP_005255427.1:p.Gln2736LysfsTer?
XM_011522525.1:c.11329_11344del (PKD1)	XP_011520827.1:p.Gln3777LysfsTer?
XM_011522526.1:c.11326_11341del (PKD1)	XP_011520828.1:p.Gln3776LysfsTer?
XM_011522527.1:c.11311_11326del (PKD1)	XP_011520829.1:p.Gln3771LysfsTer?
XM_011522528.1:c.11305_11320del (PKD1)	XP_011520830.1:p.Gln3769LysfsTer?
XM_011522529.1:c.11302_11317del (PKD1)	XP_011520831.1:p.Gln3768LysfsTer?
XM_011522530.1:c.11275_11290del (PKD1)	XP_011520832.1:p.Gln3759LysfsTer?
XM_011522531.1:c.11257_11272del (PKD1)	XP_011520833.1:p.Gln3753LysfsTer?
XM_011522532.1:c.11203_11218del (PKD1)	XP_011520834.1:p.Gln3735LysfsTer?
XM_011522533.1:c.11122_11137del (PKD1)	XP_011520835.1:p.Gln3708LysfsTer?
XM_011522534.1:c.11065_11080del (PKD1)	XP_011520836.1:p.Gln3689LysfsTer?
XM_011522535.1:c.9151_9166del (PKD1)	XP_011520837.1:p.Gln3051LysfsTer?
XM_011522537.1:c.8329_8344del (PKD1)	XP_011520839.1:p.Gln2777LysfsTer?
XR_932867.1:n.11344_11359del (PKD1)
XR_932868.1:n.11110-310_11110-295del (PKD1)
XR_932869.1:n.11110-310_11110-295del (PKD1)
XR_932870.1:n.11204_11219del (PKD1)
XR_933000.1:n.90-404_90-389del (PKD1-AS1)
XR_933001.1:n.180-404_180-389del (PKD1-AS1)
XR_933002.1:n.89-404_89-389del (PKD1-AS1)
XR_933003.1:n.89-404_89-389del (PKD1-AS1)
NR_135175.1:n.180-404_180-389del (PKD1-AS1)
XM_005255370.3:c.8206_8221del (PKD1)	XP_005255427.1:p.Gln2736LysfsTer?
XM_011522528.3:c.11305_11320del (PKD1)	XP_011520830.1:p.Gln3769LysfsTer?
XM_011522529.2:c.11302_11317del (PKD1)	XP_011520831.1:p.Gln3768LysfsTer?
XM_011522537.2:c.8329_8344del (PKD1)	XP_011520839.1:p.Gln2777LysfsTer?
XM_024450298.1:c.11371_11386del (PKD1)	XP_024306066.1:p.Gln3791LysfsTer?
XM_024450299.1:c.11299_11314del (PKD1)	XP_024306067.1:p.Gln3767LysfsTer?
XM_024450300.1:c.11161_11176del (PKD1)	XP_024306068.1:p.Gln3721LysfsTer?
XM_024450301.1:c.9247_9262del (PKD1)	XP_024306069.1:p.Gln3083LysfsTer?
NM_000296.4:c.11248_11263del (PKD1)	NP_000287.4:p.Gln3750LysfsTer?
NM_001009944.3:c.11251_11266del (PKD1) MANE Select	NP_001009944.3:p.Gln3751LysfsTer?