Canonical Allele Identifier: CA2695222248

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106594_2106595del , CM000678.2:g.2106594_2106595del	GRCh38
NC_000016.9:g.2156595_2156596del , CM000678.1:g.2156595_2156596del	GRCh37
NC_000016.8:g.2096596_2096597del	NCBI36
NG_008617.1:g.34304_34305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7292_7293del MANE Select	ENSP00000262304.4:p.Leu2431ArgfsTer?
ENST00000262304.8:c.7292_7293del	ENSP00000262304.4:p.Leu2431ArgfsTer?
ENST00000415938.7:n.537_538del
ENST00000423118.5:c.7292_7293del	ENSP00000399501.1:p.Leu2431ArgfsTer?
ENST00000483024.1:c.460_461del
ENST00000483558.5:n.351_352del
ENST00000483731.5:n.1017_1018del
ENST00000486339.6:n.1038_1039del
ENST00000487932.5:c.1979_1980del	ENSP00000457132.1:p.Leu660ArgfsTer?
ENST00000496574.6:n.1295_1296del
ENST00000565639.6:n.1000_1001del
ENST00000568591.5:c.2453_2454del	ENSP00000457162.1:n.2453_2454del
ENST00000569983.5:n.648_649del
NM_000296.3:c.7292_7293del	NP_000287.3:p.Leu2431ArgfsTer?
NM_001009944.2:c.7292_7293del	NP_001009944.2:p.Leu2431ArgfsTer?
XM_005255370.2:c.4247_4248del	XP_005255427.1:p.Leu1416ArgfsTer?
XM_011522525.1:c.7370_7371del	XP_011520827.1:p.Leu2457ArgfsTer?
XM_011522526.1:c.7370_7371del	XP_011520828.1:p.Leu2457ArgfsTer?
XM_011522527.1:c.7370_7371del	XP_011520829.1:p.Leu2457ArgfsTer?
XM_011522528.1:c.7346_7347del	XP_011520830.1:p.Leu2449ArgfsTer?
XM_011522529.1:c.7346_7347del	XP_011520831.1:p.Leu2449ArgfsTer?
XM_011522530.1:c.7316_7317del	XP_011520832.1:p.Leu2439ArgfsTer?
XM_011522531.1:c.7298_7299del	XP_011520833.1:p.Leu2433ArgfsTer?
XM_011522532.1:c.7244_7245del	XP_011520834.1:p.Leu2415ArgfsTer?
XM_011522533.1:c.7163_7164del	XP_011520835.1:p.Leu2388ArgfsTer?
XM_011522534.1:c.7106_7107del	XP_011520836.1:p.Leu2369ArgfsTer?
XM_011522535.1:c.5192_5193del	XP_011520837.1:p.Leu1731ArgfsTer?
XM_011522536.1:c.7370_7371del	XP_011520838.1:p.Leu2457ArgfsTer?
XM_011522537.1:c.4370_4371del	XP_011520839.1:p.Leu1457ArgfsTer?
XR_932867.1:n.7385_7386del
XR_932868.1:n.7385_7386del
XR_932869.1:n.7385_7386del
XR_932870.1:n.7385_7386del
XM_005255370.3:c.4247_4248del	XP_005255427.1:p.Leu1416ArgfsTer?
XM_011522528.3:c.7346_7347del	XP_011520830.1:p.Leu2449ArgfsTer?
XM_011522529.2:c.7346_7347del	XP_011520831.1:p.Leu2449ArgfsTer?
XM_011522537.2:c.4370_4371del	XP_011520839.1:p.Leu1457ArgfsTer?
XM_024450298.1:c.7412_7413del	XP_024306066.1:p.Leu2471ArgfsTer?
XM_024450299.1:c.7340_7341del	XP_024306067.1:p.Leu2447ArgfsTer?
XM_024450300.1:c.7202_7203del	XP_024306068.1:p.Leu2401ArgfsTer?
XM_024450301.1:c.5288_5289del	XP_024306069.1:p.Leu1763ArgfsTer?
NM_000296.4:c.7292_7293del	NP_000287.4:p.Leu2431ArgfsTer?
NM_001009944.3:c.7292_7293del MANE Select	NP_001009944.3:p.Leu2431ArgfsTer?