Canonical Allele Identifier: CA2202049983

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114898_2114901delinsTGAG , CM000678.2:g.2114898_2114901delinsTGAG	GRCh38
NC_000016.9:g.2164899_2164902delinsTGAG , CM000678.1:g.2164899_2164902delinsTGAG	GRCh37
NC_000016.8:g.2104900_2104903delinsTGAG	NCBI36
NG_008617.1:g.25998_26001delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2122_2125delinsCTCA MANE Select	ENSP00000262304.4:p.Leu708=
ENST00000262304.8:c.2122_2125delinsCTCA	ENSP00000262304.4:p.Leu708=
ENST00000423118.5:c.2122_2125delinsCTCA	ENSP00000399501.1:p.Leu708=
ENST00000488185.2:c.472+2588_472+2591delinsCTCA
ENST00000568591.5:c.1053_1056delinsCTCA	ENSP00000457162.1:n.1053_1056delinsCTCA
NM_000296.3:c.2122_2125delinsCTCA	NP_000287.3:p.Leu708=
NM_001009944.2:c.2122_2125delinsCTCA	NP_001009944.2:p.Leu708=
XM_011522525.1:c.2176_2179delinsCTCA	XP_011520827.1:p.Leu726=
XM_011522526.1:c.2176_2179delinsCTCA	XP_011520828.1:p.Leu726=
XM_011522527.1:c.2176_2179delinsCTCA	XP_011520829.1:p.Leu726=
XM_011522528.1:c.2176_2179delinsCTCA	XP_011520830.1:p.Leu726=
XM_011522529.1:c.2176_2179delinsCTCA	XP_011520831.1:p.Leu726=
XM_011522530.1:c.2122_2125delinsCTCA	XP_011520832.1:p.Leu708=
XM_011522531.1:c.2104_2107delinsCTCA	XP_011520833.1:p.Leu702=
XM_011522532.1:c.2050_2053delinsCTCA	XP_011520834.1:p.Leu684=
XM_011522533.1:c.1969_1972delinsCTCA	XP_011520835.1:p.Leu657=
XM_011522534.1:c.1912_1915delinsCTCA	XP_011520836.1:p.Leu638=
XM_011522535.1:c.-3_1delinsCTCA
XM_011522536.1:c.2176_2179delinsCTCA	XP_011520838.1:p.Leu726=
XR_932867.1:n.2191_2194delinsCTCA
XR_932868.1:n.2191_2194delinsCTCA
XR_932869.1:n.2191_2194delinsCTCA
XR_932870.1:n.2191_2194delinsCTCA
XM_011522528.3:c.2176_2179delinsCTCA	XP_011520830.1:p.Leu726=
XM_011522529.2:c.2176_2179delinsCTCA	XP_011520831.1:p.Leu726=
XM_024450298.1:c.2122_2125delinsCTCA	XP_024306066.1:p.Leu708=
XM_024450299.1:c.2050_2053delinsCTCA	XP_024306067.1:p.Leu684=
XM_024450300.1:c.1912_1915delinsCTCA	XP_024306068.1:p.Leu638=
XM_024450301.1:c.-3_1delinsCTCA
NM_000296.4:c.2122_2125delinsCTCA	NP_000287.4:p.Leu708=
NM_001009944.3:c.2122_2125delinsCTCA MANE Select	NP_001009944.3:p.Leu708=