Canonical Allele Identifier: CA2830782776

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106662del , CM000678.2:g.2106662del	GRCh38
NC_000016.9:g.2156663del , CM000678.1:g.2156663del	GRCh37
NC_000016.8:g.2096664del	NCBI36
NG_008617.1:g.34237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7225del MANE Select	ENSP00000262304.4:p.Thr2409ArgfsTer?
ENST00000262304.8:c.7225del	ENSP00000262304.4:p.Thr2409ArgfsTer?
ENST00000415938.7:n.470del
ENST00000423118.5:c.7225del	ENSP00000399501.1:p.Thr2409ArgfsTer?
ENST00000483024.1:c.393del
ENST00000483558.5:n.284del
ENST00000483731.5:n.950del
ENST00000486339.6:n.971del
ENST00000487932.5:c.1912del	ENSP00000457132.1:p.Thr638ArgfsTer?
ENST00000496574.6:n.1228del
ENST00000565639.6:n.933del
ENST00000568591.5:c.2386del	ENSP00000457162.1:n.2386del
ENST00000569983.5:n.581del
NM_000296.3:c.7225del	NP_000287.3:p.Thr2409ArgfsTer?
NM_001009944.2:c.7225del	NP_001009944.2:p.Thr2409ArgfsTer?
XM_005255370.2:c.4180del	XP_005255427.1:p.Thr1394ArgfsTer?
XM_011522525.1:c.7303del	XP_011520827.1:p.Thr2435ArgfsTer?
XM_011522526.1:c.7303del	XP_011520828.1:p.Thr2435ArgfsTer?
XM_011522527.1:c.7303del	XP_011520829.1:p.Thr2435ArgfsTer?
XM_011522528.1:c.7279del	XP_011520830.1:p.Thr2427ArgfsTer?
XM_011522529.1:c.7279del	XP_011520831.1:p.Thr2427ArgfsTer?
XM_011522530.1:c.7249del	XP_011520832.1:p.Thr2417ArgfsTer?
XM_011522531.1:c.7231del	XP_011520833.1:p.Thr2411ArgfsTer?
XM_011522532.1:c.7177del	XP_011520834.1:p.Thr2393ArgfsTer?
XM_011522533.1:c.7096del	XP_011520835.1:p.Thr2366ArgfsTer?
XM_011522534.1:c.7039del	XP_011520836.1:p.Thr2347ArgfsTer?
XM_011522535.1:c.5125del	XP_011520837.1:p.Thr1709ArgfsTer?
XM_011522536.1:c.7303del	XP_011520838.1:p.Thr2435ArgfsTer?
XM_011522537.1:c.4303del	XP_011520839.1:p.Thr1435ArgfsTer?
XR_932867.1:n.7318del
XR_932868.1:n.7318del
XR_932869.1:n.7318del
XR_932870.1:n.7318del
XM_005255370.3:c.4180del	XP_005255427.1:p.Thr1394ArgfsTer?
XM_011522528.3:c.7279del	XP_011520830.1:p.Thr2427ArgfsTer?
XM_011522529.2:c.7279del	XP_011520831.1:p.Thr2427ArgfsTer?
XM_011522537.2:c.4303del	XP_011520839.1:p.Thr1435ArgfsTer?
XM_024450298.1:c.7345del	XP_024306066.1:p.Thr2449ArgfsTer?
XM_024450299.1:c.7273del	XP_024306067.1:p.Thr2425ArgfsTer?
XM_024450300.1:c.7135del	XP_024306068.1:p.Thr2379ArgfsTer?
XM_024450301.1:c.5221del	XP_024306069.1:p.Thr1741ArgfsTer?
NM_000296.4:c.7225del	NP_000287.4:p.Thr2409ArgfsTer?
NM_001009944.3:c.7225del MANE Select	NP_001009944.3:p.Thr2409ArgfsTer?