Canonical Allele Identifier: CA2695222482

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111609_2111614delinsTAGGTGCA , CM000678.2:g.2111609_2111614delinsTAGGTGCA	GRCh38
NC_000016.9:g.2161610_2161615delinsTAGGTGCA , CM000678.1:g.2161610_2161615delinsTAGGTGCA	GRCh37
NC_000016.8:g.2101611_2101616delinsTAGGTGCA	NCBI36
NG_008617.1:g.29285_29290delinsTGCACCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3553_3558delinsTGCACCTA MANE Select	ENSP00000262304.4:p.Gly1185CysfsTer14
ENST00000262304.8:c.3553_3558delinsTGCACCTA	ENSP00000262304.4:p.Gly1185CysfsTer14
ENST00000415938.7:n.310+726_310+731delinsTGCACCTA
ENST00000423118.5:c.3553_3558delinsTGCACCTA	ENSP00000399501.1:p.Gly1185CysfsTer14
ENST00000468674.5:n.430+726_430+731delinsTGCACCTA
ENST00000469241.2:n.503_508delinsTGCACCTA
ENST00000483024.1:c.233+202_233+207delinsTGCACCTA
ENST00000483731.5:n.790+726_790+731delinsTGCACCTA
ENST00000488185.2:c.473-3256_473-3251delinsTGCACCTA
ENST00000565639.6:n.773+726_773+731delinsTGCACCTA
ENST00000568591.5:c.2226+726_2226+731delinsTGCACCTA	ENSP00000457162.1:n.2226+726_2226+731delinsTGCACCTA
ENST00000569983.5:n.421+726_421+731delinsTGCACCTA
NM_000296.3:c.3553_3558delinsTGCACCTA	NP_000287.3:p.Gly1185CysfsTer14
NM_001009944.2:c.3553_3558delinsTGCACCTA	NP_001009944.2:p.Gly1185CysfsTer14
XM_005255370.2:c.508_513delinsTGCACCTA	XP_005255427.1:p.Gly170CysfsTer14
XM_011522525.1:c.3631_3636delinsTGCACCTA	XP_011520827.1:p.Gly1211CysfsTer14
XM_011522526.1:c.3631_3636delinsTGCACCTA	XP_011520828.1:p.Gly1211CysfsTer14
XM_011522527.1:c.3631_3636delinsTGCACCTA	XP_011520829.1:p.Gly1211CysfsTer14
XM_011522528.1:c.3607_3612delinsTGCACCTA	XP_011520830.1:p.Gly1203CysfsTer14
XM_011522529.1:c.3607_3612delinsTGCACCTA	XP_011520831.1:p.Gly1203CysfsTer14
XM_011522530.1:c.3577_3582delinsTGCACCTA	XP_011520832.1:p.Gly1193CysfsTer14
XM_011522531.1:c.3559_3564delinsTGCACCTA	XP_011520833.1:p.Gly1187CysfsTer14
XM_011522532.1:c.3505_3510delinsTGCACCTA	XP_011520834.1:p.Gly1169CysfsTer14
XM_011522533.1:c.3424_3429delinsTGCACCTA	XP_011520835.1:p.Gly1142CysfsTer14
XM_011522534.1:c.3367_3372delinsTGCACCTA	XP_011520836.1:p.Gly1123CysfsTer14
XM_011522535.1:c.1453_1458delinsTGCACCTA	XP_011520837.1:p.Gly485CysfsTer14
XM_011522536.1:c.3631_3636delinsTGCACCTA	XP_011520838.1:p.Gly1211CysfsTer14
XM_011522537.1:c.631_636delinsTGCACCTA	XP_011520839.1:p.Gly211CysfsTer14
XR_932867.1:n.3646_3651delinsTGCACCTA
XR_932868.1:n.3646_3651delinsTGCACCTA
XR_932869.1:n.3646_3651delinsTGCACCTA
XR_932870.1:n.3646_3651delinsTGCACCTA
XM_005255370.3:c.508_513delinsTGCACCTA	XP_005255427.1:p.Gly170CysfsTer14
XM_011522528.3:c.3607_3612delinsTGCACCTA	XP_011520830.1:p.Gly1203CysfsTer14
XM_011522529.2:c.3607_3612delinsTGCACCTA	XP_011520831.1:p.Gly1203CysfsTer14
XM_011522537.2:c.631_636delinsTGCACCTA	XP_011520839.1:p.Gly211CysfsTer14
XM_024450298.1:c.3673_3678delinsTGCACCTA	XP_024306066.1:p.Gly1225CysfsTer14
XM_024450299.1:c.3601_3606delinsTGCACCTA	XP_024306067.1:p.Gly1201CysfsTer14
XM_024450300.1:c.3463_3468delinsTGCACCTA	XP_024306068.1:p.Gly1155CysfsTer14
XM_024450301.1:c.1549_1554delinsTGCACCTA	XP_024306069.1:p.Gly517CysfsTer14
NM_000296.4:c.3553_3558delinsTGCACCTA	NP_000287.4:p.Gly1185CysfsTer14
NM_001009944.3:c.3553_3558delinsTGCACCTA MANE Select	NP_001009944.3:p.Gly1185CysfsTer14