Canonical Allele Identifier: CA2580090941
Community Standard Title: NM_001009944.3(PKD1):c.10203dup (p.Leu3402SerfsTer3)
Gene: PKD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2097747dup , CM000678.2:g.2097747dup GRCh38
NC_000016.9:g.2147748dup , CM000678.1:g.2147748dup GRCh37
NC_000016.8:g.2087749dup NCBI36
NG_008617.1:g.45476dup

Transcript Alleles

HGVS Amino-acid Change
NM_001009944.3:c.10203dup MANE Select NP_001009944.3:p.Leu3402SerfsTer3
ENST00000262304.9:c.10203dup MANE Select ENSP00000262304.4:p.Leu3402SerfsTer3
NM_000296.3:c.10200dup NP_000287.3:p.Leu3401SerfsTer3
NM_000296.4:c.10200dup NP_000287.4:p.Leu3401SerfsTer3
NM_001009944.2:c.10203dup NP_001009944.2:p.Leu3402SerfsTer3
ENST00000262304.8:c.10203dup ENSP00000262304.4:p.Leu3402SerfsTer3
ENST00000415938.7:n.3369dup
ENST00000423118.5:c.10200dup ENSP00000399501.1:p.Leu3401SerfsTer3
ENST00000483731.5:n.4176dup
ENST00000486339.6:n.4426dup
ENST00000487932.5:c.4765dup ENSP00000457132.1:n.4765dup
ENST00000562297.5:n.2023dup
ENST00000567946.1:c.1805dup
ENST00000570253.5:n.586dup
XM_005255370.2:c.7158dup XP_005255427.1:p.Leu2387SerfsTer3
XM_005255370.3:c.7158dup XP_005255427.1:p.Leu2387SerfsTer3
XM_011522525.1:c.10281dup XP_011520827.1:p.Leu3428SerfsTer3
XM_011522526.1:c.10278dup XP_011520828.1:p.Leu3427SerfsTer3
XM_011522527.1:c.10263dup XP_011520829.1:p.Leu3422SerfsTer3
XM_011522528.1:c.10257dup XP_011520830.1:p.Leu3420SerfsTer3
XM_011522528.3:c.10257dup XP_011520830.1:p.Leu3420SerfsTer3
XM_011522529.1:c.10254dup XP_011520831.1:p.Leu3419SerfsTer3
XM_011522529.2:c.10254dup XP_011520831.1:p.Leu3419SerfsTer3
XM_011522530.1:c.10227dup XP_011520832.1:p.Leu3410SerfsTer3
XM_011522531.1:c.10209dup XP_011520833.1:p.Leu3404SerfsTer3
XM_011522532.1:c.10155dup XP_011520834.1:p.Leu3386SerfsTer3
XM_011522533.1:c.10074dup XP_011520835.1:p.Leu3359SerfsTer3
XM_011522534.1:c.10017dup XP_011520836.1:p.Leu3340SerfsTer3
XM_011522535.1:c.8103dup XP_011520837.1:p.Leu2702SerfsTer3
XM_011522537.1:c.7281dup XP_011520839.1:p.Leu2428SerfsTer3
XM_011522537.2:c.7281dup XP_011520839.1:p.Leu2428SerfsTer3
XM_024450298.1:c.10323dup XP_024306066.1:p.Leu3442SerfsTer3
XM_024450299.1:c.10251dup XP_024306067.1:p.Leu3418SerfsTer3
XM_024450300.1:c.10113dup XP_024306068.1:p.Leu3372SerfsTer3
XM_024450301.1:c.8199dup XP_024306069.1:p.Leu2734SerfsTer3
XR_932867.1:n.10296dup
XR_932868.1:n.10296dup
XR_932869.1:n.10296dup
XR_932870.1:n.10296dup