Canonical Allele Identifier: CA2695222260

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106637del , CM000678.2:g.2106637del	GRCh38
NC_000016.9:g.2156638del , CM000678.1:g.2156638del	GRCh37
NC_000016.8:g.2096639del	NCBI36
NG_008617.1:g.34262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7250del MANE Select	ENSP00000262304.4:p.Leu2417ArgfsTer?
ENST00000262304.8:c.7250del	ENSP00000262304.4:p.Leu2417ArgfsTer?
ENST00000415938.7:n.495del
ENST00000423118.5:c.7250del	ENSP00000399501.1:p.Leu2417ArgfsTer?
ENST00000483024.1:c.418del
ENST00000483558.5:n.309del
ENST00000483731.5:n.975del
ENST00000486339.6:n.996del
ENST00000487932.5:c.1937del	ENSP00000457132.1:p.Leu646ArgfsTer?
ENST00000496574.6:n.1253del
ENST00000565639.6:n.958del
ENST00000568591.5:c.2411del	ENSP00000457162.1:n.2411del
ENST00000569983.5:n.606del
NM_000296.3:c.7250del	NP_000287.3:p.Leu2417ArgfsTer?
NM_001009944.2:c.7250del	NP_001009944.2:p.Leu2417ArgfsTer?
XM_005255370.2:c.4205del	XP_005255427.1:p.Leu1402ArgfsTer?
XM_011522525.1:c.7328del	XP_011520827.1:p.Leu2443ArgfsTer?
XM_011522526.1:c.7328del	XP_011520828.1:p.Leu2443ArgfsTer?
XM_011522527.1:c.7328del	XP_011520829.1:p.Leu2443ArgfsTer?
XM_011522528.1:c.7304del	XP_011520830.1:p.Leu2435ArgfsTer?
XM_011522529.1:c.7304del	XP_011520831.1:p.Leu2435ArgfsTer?
XM_011522530.1:c.7274del	XP_011520832.1:p.Leu2425ArgfsTer?
XM_011522531.1:c.7256del	XP_011520833.1:p.Leu2419ArgfsTer?
XM_011522532.1:c.7202del	XP_011520834.1:p.Leu2401ArgfsTer?
XM_011522533.1:c.7121del	XP_011520835.1:p.Leu2374ArgfsTer?
XM_011522534.1:c.7064del	XP_011520836.1:p.Leu2355ArgfsTer?
XM_011522535.1:c.5150del	XP_011520837.1:p.Leu1717ArgfsTer?
XM_011522536.1:c.7328del	XP_011520838.1:p.Leu2443ArgfsTer?
XM_011522537.1:c.4328del	XP_011520839.1:p.Leu1443ArgfsTer?
XR_932867.1:n.7343del
XR_932868.1:n.7343del
XR_932869.1:n.7343del
XR_932870.1:n.7343del
XM_005255370.3:c.4205del	XP_005255427.1:p.Leu1402ArgfsTer?
XM_011522528.3:c.7304del	XP_011520830.1:p.Leu2435ArgfsTer?
XM_011522529.2:c.7304del	XP_011520831.1:p.Leu2435ArgfsTer?
XM_011522537.2:c.4328del	XP_011520839.1:p.Leu1443ArgfsTer?
XM_024450298.1:c.7370del	XP_024306066.1:p.Leu2457ArgfsTer?
XM_024450299.1:c.7298del	XP_024306067.1:p.Leu2433ArgfsTer?
XM_024450300.1:c.7160del	XP_024306068.1:p.Leu2387ArgfsTer?
XM_024450301.1:c.5246del	XP_024306069.1:p.Leu1749ArgfsTer?
NM_000296.4:c.7250del	NP_000287.4:p.Leu2417ArgfsTer?
NM_001009944.3:c.7250del MANE Select	NP_001009944.3:p.Leu2417ArgfsTer?