Canonical Allele Identifier: CA2695222245

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106590_2106592del , CM000678.2:g.2106590_2106592del	GRCh38
NC_000016.9:g.2156591_2156593del , CM000678.1:g.2156591_2156593del	GRCh37
NC_000016.8:g.2096592_2096594del	NCBI36
NG_008617.1:g.34310_34312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7298_7300del MANE Select	ENSP00000262304.4:p.Leu2433del
ENST00000262304.8:c.7298_7300del	ENSP00000262304.4:p.Leu2433del
ENST00000415938.7:n.543_545del
ENST00000423118.5:c.7298_7300del	ENSP00000399501.1:p.Leu2433del
ENST00000483558.5:n.357_359del
ENST00000483731.5:n.1023_1025del
ENST00000486339.6:n.1044_1046del
ENST00000487932.5:c.1985_1987del	ENSP00000457132.1:p.Leu662del
ENST00000496574.6:n.1301_1303del
ENST00000565639.6:n.1006_1008del
ENST00000568591.5:c.2459_2461del	ENSP00000457162.1:n.2459_2461del
ENST00000569983.5:n.654_656del
NM_000296.3:c.7298_7300del	NP_000287.3:p.Leu2433del
NM_001009944.2:c.7298_7300del	NP_001009944.2:p.Leu2433del
XM_005255370.2:c.4253_4255del	XP_005255427.1:p.Leu1418del
XM_011522525.1:c.7376_7378del	XP_011520827.1:p.Leu2459del
XM_011522526.1:c.7376_7378del	XP_011520828.1:p.Leu2459del
XM_011522527.1:c.7376_7378del	XP_011520829.1:p.Leu2459del
XM_011522528.1:c.7352_7354del	XP_011520830.1:p.Leu2451del
XM_011522529.1:c.7352_7354del	XP_011520831.1:p.Leu2451del
XM_011522530.1:c.7322_7324del	XP_011520832.1:p.Leu2441del
XM_011522531.1:c.7304_7306del	XP_011520833.1:p.Leu2435del
XM_011522532.1:c.7250_7252del	XP_011520834.1:p.Leu2417del
XM_011522533.1:c.7169_7171del	XP_011520835.1:p.Leu2390del
XM_011522534.1:c.7112_7114del	XP_011520836.1:p.Leu2371del
XM_011522535.1:c.5198_5200del	XP_011520837.1:p.Leu1733del
XM_011522536.1:c.7376_7378del	XP_011520838.1:p.Leu2459del
XM_011522537.1:c.4376_4378del	XP_011520839.1:p.Leu1459del
XR_932867.1:n.7391_7393del
XR_932868.1:n.7391_7393del
XR_932869.1:n.7391_7393del
XR_932870.1:n.7391_7393del
XM_005255370.3:c.4253_4255del	XP_005255427.1:p.Leu1418del
XM_011522528.3:c.7352_7354del	XP_011520830.1:p.Leu2451del
XM_011522529.2:c.7352_7354del	XP_011520831.1:p.Leu2451del
XM_011522537.2:c.4376_4378del	XP_011520839.1:p.Leu1459del
XM_024450298.1:c.7418_7420del	XP_024306066.1:p.Leu2473del
XM_024450299.1:c.7346_7348del	XP_024306067.1:p.Leu2449del
XM_024450300.1:c.7208_7210del	XP_024306068.1:p.Leu2403del
XM_024450301.1:c.5294_5296del	XP_024306069.1:p.Leu1765del
NM_000296.4:c.7298_7300del	NP_000287.4:p.Leu2433del
NM_001009944.3:c.7298_7300del MANE Select	NP_001009944.3:p.Leu2433del