Canonical Allele Identifier: CA913191024

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 618800
• ClinVar RCV Id: RCV000757632 ; RCV002477742
• dbSNP Id: rs1567155179

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092545_2092551del , CM000678.2:g.2092545_2092551del	GRCh38
NC_000016.9:g.2142546_2142552del , CM000678.1:g.2142546_2142552del	GRCh37
NC_000016.8:g.2082547_2082553del	NCBI36
NG_008617.1:g.50672_50678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11200_11206del (PKD1) MANE Select	ENSP00000262304.4:p.Tyr3734ThrfsTer?
ENST00000262304.8:c.11200_11206del (PKD1)	ENSP00000262304.4:p.Tyr3734ThrfsTer?
ENST00000423118.5:c.11197_11203del (PKD1)	ENSP00000399501.1:p.Tyr3733ThrfsTer?
ENST00000485120.1:n.49_55del (PKD1)
ENST00000487932.5:c.5762_5768del (PKD1)	ENSP00000457132.1:n.5762_5768del
ENST00000562425.1:c.313_319del (PKD1)
ENST00000567355.1:n.363_369del (PKD1)
NM_000296.3:c.11197_11203del (PKD1)	NP_000287.3:p.Tyr3733ThrfsTer?
NM_001009944.2:c.11200_11206del (PKD1)	NP_001009944.2:p.Tyr3734ThrfsTer?
XM_005255370.2:c.8155_8161del (PKD1)	XP_005255427.1:p.Tyr2719ThrfsTer?
XM_011522525.1:c.11278_11284del (PKD1)	XP_011520827.1:p.Tyr3760ThrfsTer?
XM_011522526.1:c.11275_11281del (PKD1)	XP_011520828.1:p.Tyr3759ThrfsTer?
XM_011522527.1:c.11260_11266del (PKD1)	XP_011520829.1:p.Tyr3754ThrfsTer?
XM_011522528.1:c.11254_11260del (PKD1)	XP_011520830.1:p.Tyr3752ThrfsTer?
XM_011522529.1:c.11251_11257del (PKD1)	XP_011520831.1:p.Tyr3751ThrfsTer?
XM_011522530.1:c.11224_11230del (PKD1)	XP_011520832.1:p.Tyr3742ThrfsTer?
XM_011522531.1:c.11206_11212del (PKD1)	XP_011520833.1:p.Tyr3736ThrfsTer?
XM_011522532.1:c.11152_11158del (PKD1)	XP_011520834.1:p.Tyr3718ThrfsTer?
XM_011522533.1:c.11071_11077del (PKD1)	XP_011520835.1:p.Tyr3691ThrfsTer?
XM_011522534.1:c.11014_11020del (PKD1)	XP_011520836.1:p.Tyr3672ThrfsTer?
XM_011522535.1:c.9100_9106del (PKD1)	XP_011520837.1:p.Tyr3034ThrfsTer?
XM_011522537.1:c.8278_8284del (PKD1)	XP_011520839.1:p.Tyr2760ThrfsTer?
XR_932867.1:n.11293_11299del (PKD1)
XR_932868.1:n.11110-361_11110-355del (PKD1)
XR_932869.1:n.11110-361_11110-355del (PKD1)
XR_932870.1:n.11153_11159del (PKD1)
XR_933000.1:n.90-344_90-338del (PKD1-AS1)
XR_933001.1:n.180-344_180-338del (PKD1-AS1)
XR_933002.1:n.89-344_89-338del (PKD1-AS1)
XR_933003.1:n.89-344_89-338del (PKD1-AS1)
NR_135175.1:n.180-344_180-338del (PKD1-AS1)
XM_005255370.3:c.8155_8161del (PKD1)	XP_005255427.1:p.Tyr2719ThrfsTer?
XM_011522528.3:c.11254_11260del (PKD1)	XP_011520830.1:p.Tyr3752ThrfsTer?
XM_011522529.2:c.11251_11257del (PKD1)	XP_011520831.1:p.Tyr3751ThrfsTer?
XM_011522537.2:c.8278_8284del (PKD1)	XP_011520839.1:p.Tyr2760ThrfsTer?
XM_024450298.1:c.11320_11326del (PKD1)	XP_024306066.1:p.Tyr3774ThrfsTer?
XM_024450299.1:c.11248_11254del (PKD1)	XP_024306067.1:p.Tyr3750ThrfsTer?
XM_024450300.1:c.11110_11116del (PKD1)	XP_024306068.1:p.Tyr3704ThrfsTer?
XM_024450301.1:c.9196_9202del (PKD1)	XP_024306069.1:p.Tyr3066ThrfsTer?
NM_000296.4:c.11197_11203del (PKD1)	NP_000287.4:p.Tyr3733ThrfsTer?
NM_001009944.3:c.11200_11206del (PKD1) MANE Select	NP_001009944.3:p.Tyr3734ThrfsTer?