Canonical Allele Identifier: CA2573332656

Gene: PKD1 PKD1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2094116_2094137dup , CM000678.2:g.2094116_2094137dup	GRCh38
NC_000016.9:g.2144117_2144138dup , CM000678.1:g.2144117_2144138dup	GRCh37
NC_000016.8:g.2084118_2084139dup	NCBI36
NG_008617.1:g.49084_49105dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.10573_10594dup (PKD1) MANE Select	ENSP00000262304.4:p.Gln3532ArgfsTer?
ENST00000262304.8:c.10573_10594dup (PKD1)	ENSP00000262304.4:p.Gln3532ArgfsTer?
ENST00000423118.5:c.10570_10591dup (PKD1)	ENSP00000399501.1:p.Gln3531ArgfsTer?
ENST00000472659.1:n.10_31dup (PKD1)
ENST00000487932.5:c.5135_5156dup (PKD1)	ENSP00000457132.1:n.5135_5156dup
NM_000296.3:c.10570_10591dup (PKD1)	NP_000287.3:p.Gln3531ArgfsTer?
NM_001009944.2:c.10573_10594dup (PKD1)	NP_001009944.2:p.Gln3532ArgfsTer?
XM_005255370.2:c.7528_7549dup (PKD1)	XP_005255427.1:p.Gln2517ArgfsTer?
XM_011522525.1:c.10651_10672dup (PKD1)	XP_011520827.1:p.Gln3558ArgfsTer?
XM_011522526.1:c.10648_10669dup (PKD1)	XP_011520828.1:p.Gln3557ArgfsTer?
XM_011522527.1:c.10633_10654dup (PKD1)	XP_011520829.1:p.Gln3552ArgfsTer?
XM_011522528.1:c.10627_10648dup (PKD1)	XP_011520830.1:p.Gln3550ArgfsTer?
XM_011522529.1:c.10624_10645dup (PKD1)	XP_011520831.1:p.Gln3549ArgfsTer?
XM_011522530.1:c.10597_10618dup (PKD1)	XP_011520832.1:p.Gln3540ArgfsTer?
XM_011522531.1:c.10579_10600dup (PKD1)	XP_011520833.1:p.Gln3534ArgfsTer?
XM_011522532.1:c.10525_10546dup (PKD1)	XP_011520834.1:p.Gln3516ArgfsTer?
XM_011522533.1:c.10444_10465dup (PKD1)	XP_011520835.1:p.Gln3489ArgfsTer?
XM_011522534.1:c.10387_10408dup (PKD1)	XP_011520836.1:p.Gln3470ArgfsTer?
XM_011522535.1:c.8473_8494dup (PKD1)	XP_011520837.1:p.Gln2832ArgfsTer?
XM_011522537.1:c.7651_7672dup (PKD1)	XP_011520839.1:p.Gln2558ArgfsTer?
XR_932867.1:n.10666_10687dup (PKD1)
XR_932868.1:n.10666_10687dup (PKD1)
XR_932869.1:n.10666_10687dup (PKD1)
XR_932870.1:n.10666_10687dup (PKD1)
XR_933000.1:n.214-562_214-541dup (PKD1-AS1)
XR_933001.1:n.304-605_304-584dup (PKD1-AS1)
XR_933002.1:n.213-562_213-541dup (PKD1-AS1)
XR_933003.1:n.213-605_213-584dup (PKD1-AS1)
NR_135175.1:n.304-605_304-584dup (PKD1-AS1)
XM_005255370.3:c.7528_7549dup (PKD1)	XP_005255427.1:p.Gln2517ArgfsTer?
XM_011522528.3:c.10627_10648dup (PKD1)	XP_011520830.1:p.Gln3550ArgfsTer?
XM_011522529.2:c.10624_10645dup (PKD1)	XP_011520831.1:p.Gln3549ArgfsTer?
XM_011522537.2:c.7651_7672dup (PKD1)	XP_011520839.1:p.Gln2558ArgfsTer?
XM_024450298.1:c.10693_10714dup (PKD1)	XP_024306066.1:p.Gln3572ArgfsTer?
XM_024450299.1:c.10621_10642dup (PKD1)	XP_024306067.1:p.Gln3548ArgfsTer?
XM_024450300.1:c.10483_10504dup (PKD1)	XP_024306068.1:p.Gln3502ArgfsTer?
XM_024450301.1:c.8569_8590dup (PKD1)	XP_024306069.1:p.Gln2864ArgfsTer?
NM_000296.4:c.10570_10591dup (PKD1)	NP_000287.4:p.Gln3531ArgfsTer?
NM_001009944.3:c.10573_10594dup (PKD1) MANE Select	NP_001009944.3:p.Gln3532ArgfsTer?