Canonical Allele Identifier: CA2695197387

Gene: PKD1 PKD1-AS1

Linked Data

• ClinVar Variation Id: 2632243
• ClinVar RCV Id: RCV003406072

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092517dup , CM000678.2:g.2092517dup	GRCh38
NC_000016.9:g.2142518dup , CM000678.1:g.2142518dup	GRCh37
NC_000016.8:g.2082519dup	NCBI36
NG_008617.1:g.50707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11235dup (PKD1) MANE Select	ENSP00000262304.4:p.Pro3746AlafsTer?
ENST00000262304.8:c.11235dup (PKD1)	ENSP00000262304.4:p.Pro3746AlafsTer?
ENST00000423118.5:c.11232dup (PKD1)	ENSP00000399501.1:p.Pro3745AlafsTer?
ENST00000485120.1:n.84dup (PKD1)
ENST00000487932.5:c.5797dup (PKD1)	ENSP00000457132.1:n.5797dup
ENST00000562425.1:c.348dup (PKD1)
ENST00000567355.1:n.398dup (PKD1)
NM_000296.3:c.11232dup (PKD1)	NP_000287.3:p.Pro3745AlafsTer?
NM_001009944.2:c.11235dup (PKD1)	NP_001009944.2:p.Pro3746AlafsTer?
XM_005255370.2:c.8190dup (PKD1)	XP_005255427.1:p.Pro2731AlafsTer?
XM_011522525.1:c.11313dup (PKD1)	XP_011520827.1:p.Pro3772AlafsTer?
XM_011522526.1:c.11310dup (PKD1)	XP_011520828.1:p.Pro3771AlafsTer?
XM_011522527.1:c.11295dup (PKD1)	XP_011520829.1:p.Pro3766AlafsTer?
XM_011522528.1:c.11289dup (PKD1)	XP_011520830.1:p.Pro3764AlafsTer?
XM_011522529.1:c.11286dup (PKD1)	XP_011520831.1:p.Pro3763AlafsTer?
XM_011522530.1:c.11259dup (PKD1)	XP_011520832.1:p.Pro3754AlafsTer?
XM_011522531.1:c.11241dup (PKD1)	XP_011520833.1:p.Pro3748AlafsTer?
XM_011522532.1:c.11187dup (PKD1)	XP_011520834.1:p.Pro3730AlafsTer?
XM_011522533.1:c.11106dup (PKD1)	XP_011520835.1:p.Pro3703AlafsTer?
XM_011522534.1:c.11049dup (PKD1)	XP_011520836.1:p.Pro3684AlafsTer?
XM_011522535.1:c.9135dup (PKD1)	XP_011520837.1:p.Pro3046AlafsTer?
XM_011522537.1:c.8313dup (PKD1)	XP_011520839.1:p.Pro2772AlafsTer?
XR_932867.1:n.11328dup (PKD1)
XR_932868.1:n.11110-326dup (PKD1)
XR_932869.1:n.11110-326dup (PKD1)
XR_932870.1:n.11188dup (PKD1)
XR_933000.1:n.90-372dup (PKD1-AS1)
XR_933001.1:n.180-372dup (PKD1-AS1)
XR_933002.1:n.89-372dup (PKD1-AS1)
XR_933003.1:n.89-372dup (PKD1-AS1)
NR_135175.1:n.180-372dup (PKD1-AS1)
XM_005255370.3:c.8190dup (PKD1)	XP_005255427.1:p.Pro2731AlafsTer?
XM_011522528.3:c.11289dup (PKD1)	XP_011520830.1:p.Pro3764AlafsTer?
XM_011522529.2:c.11286dup (PKD1)	XP_011520831.1:p.Pro3763AlafsTer?
XM_011522537.2:c.8313dup (PKD1)	XP_011520839.1:p.Pro2772AlafsTer?
XM_024450298.1:c.11355dup (PKD1)	XP_024306066.1:p.Pro3786AlafsTer?
XM_024450299.1:c.11283dup (PKD1)	XP_024306067.1:p.Pro3762AlafsTer?
XM_024450300.1:c.11145dup (PKD1)	XP_024306068.1:p.Pro3716AlafsTer?
XM_024450301.1:c.9231dup (PKD1)	XP_024306069.1:p.Pro3078AlafsTer?
NM_000296.4:c.11232dup (PKD1)	NP_000287.4:p.Pro3745AlafsTer?
NM_001009944.3:c.11235dup (PKD1) MANE Select	NP_001009944.3:p.Pro3746AlafsTer?