Canonical Allele Identifier: CA2202034903

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106548_2106551delinsTGAA , CM000678.2:g.2106548_2106551delinsTGAA	GRCh38
NC_000016.9:g.2156549_2156552delinsTGAA , CM000678.1:g.2156549_2156552delinsTGAA	GRCh37
NC_000016.8:g.2096550_2096553delinsTGAA	NCBI36
NG_008617.1:g.34348_34351delinsTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7336_7339delinsTTCA MANE Select	ENSP00000262304.4:p.Phe2446=
ENST00000262304.8:c.7336_7339delinsTTCA	ENSP00000262304.4:p.Phe2446=
ENST00000415938.7:n.581_584delinsTTCA
ENST00000423118.5:c.7336_7339delinsTTCA	ENSP00000399501.1:p.Phe2446=
ENST00000483558.5:n.395_398delinsTTCA
ENST00000483731.5:n.1061_1064delinsTTCA
ENST00000486339.6:n.1082_1085delinsTTCA
ENST00000487932.5:c.2023_2026delinsTTCA	ENSP00000457132.1:p.Phe675=
ENST00000496574.6:n.1339_1342delinsTTCA
ENST00000565639.6:n.1044_1047delinsTTCA
ENST00000568591.5:c.2497_2500delinsTTCA	ENSP00000457162.1:n.2497_2500delinsTTCA
ENST00000569983.5:n.692_695delinsTTCA
NM_000296.3:c.7336_7339delinsTTCA	NP_000287.3:p.Phe2446=
NM_001009944.2:c.7336_7339delinsTTCA	NP_001009944.2:p.Phe2446=
XM_005255370.2:c.4291_4294delinsTTCA	XP_005255427.1:p.Phe1431=
XM_011522525.1:c.7414_7417delinsTTCA	XP_011520827.1:p.Phe2472=
XM_011522526.1:c.7414_7417delinsTTCA	XP_011520828.1:p.Phe2472=
XM_011522527.1:c.7414_7417delinsTTCA	XP_011520829.1:p.Phe2472=
XM_011522528.1:c.7390_7393delinsTTCA	XP_011520830.1:p.Phe2464=
XM_011522529.1:c.7390_7393delinsTTCA	XP_011520831.1:p.Phe2464=
XM_011522530.1:c.7360_7363delinsTTCA	XP_011520832.1:p.Phe2454=
XM_011522531.1:c.7342_7345delinsTTCA	XP_011520833.1:p.Phe2448=
XM_011522532.1:c.7288_7291delinsTTCA	XP_011520834.1:p.Phe2430=
XM_011522533.1:c.7207_7210delinsTTCA	XP_011520835.1:p.Phe2403=
XM_011522534.1:c.7150_7153delinsTTCA	XP_011520836.1:p.Phe2384=
XM_011522535.1:c.5236_5239delinsTTCA	XP_011520837.1:p.Phe1746=
XM_011522536.1:c.7414_7417delinsTTCA	XP_011520838.1:p.Phe2472=
XM_011522537.1:c.4414_4417delinsTTCA	XP_011520839.1:p.Phe1472=
XR_932867.1:n.7429_7432delinsTTCA
XR_932868.1:n.7429_7432delinsTTCA
XR_932869.1:n.7429_7432delinsTTCA
XR_932870.1:n.7429_7432delinsTTCA
XM_005255370.3:c.4291_4294delinsTTCA	XP_005255427.1:p.Phe1431=
XM_011522528.3:c.7390_7393delinsTTCA	XP_011520830.1:p.Phe2464=
XM_011522529.2:c.7390_7393delinsTTCA	XP_011520831.1:p.Phe2464=
XM_011522537.2:c.4414_4417delinsTTCA	XP_011520839.1:p.Phe1472=
XM_024450298.1:c.7456_7459delinsTTCA	XP_024306066.1:p.Phe2486=
XM_024450299.1:c.7384_7387delinsTTCA	XP_024306067.1:p.Phe2462=
XM_024450300.1:c.7246_7249delinsTTCA	XP_024306068.1:p.Phe2416=
XM_024450301.1:c.5332_5335delinsTTCA	XP_024306069.1:p.Phe1778=
NM_000296.4:c.7336_7339delinsTTCA	NP_000287.4:p.Phe2446=
NM_001009944.3:c.7336_7339delinsTTCA MANE Select	NP_001009944.3:p.Phe2446=