Canonical Allele Identifier: CA2839609761

Gene: PKD1 MIR6511B1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106672_2106676del , CM000678.2:g.2106672_2106676del	GRCh38
NC_000016.9:g.2156673_2156677del , CM000678.1:g.2156673_2156677del	GRCh37
NC_000016.8:g.2096674_2096678del	NCBI36
NG_008617.1:g.34224_34228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7212_7216del (PKD1) MANE Select	ENSP00000262304.4:p.Trp2405CysfsTer13
ENST00000262304.8:c.7212_7216del (PKD1)	ENSP00000262304.4:p.Trp2405CysfsTer13
ENST00000415938.7:n.457_461del (PKD1)
ENST00000423118.5:c.7212_7216del (PKD1)	ENSP00000399501.1:p.Trp2405CysfsTer13
ENST00000483024.1:c.380_384del (PKD1)
ENST00000483558.5:n.271_275del (PKD1)
ENST00000483731.5:n.937_941del (PKD1)
ENST00000486339.6:n.958_962del (PKD1)
ENST00000487932.5:c.1899_1903del (PKD1)	ENSP00000457132.1:p.Trp634CysfsTer13
ENST00000496574.6:n.1215_1219del (PKD1)
ENST00000565639.6:n.920_924del (PKD1)
ENST00000568591.5:c.2373_2377del (PKD1)	ENSP00000457162.1:n.2373_2377del
ENST00000569983.5:n.568_572del (PKD1)
NM_000296.3:c.7212_7216del (PKD1)	NP_000287.3:p.Trp2405CysfsTer13
NM_001009944.2:c.7212_7216del (PKD1)	NP_001009944.2:p.Trp2405CysfsTer13
NR_106775.1:n.79_83del (MIR6511B1)
XM_005255370.2:c.4167_4171del (PKD1)	XP_005255427.1:p.Trp1390CysfsTer13
XM_011522525.1:c.7290_7294del (PKD1)	XP_011520827.1:p.Trp2431CysfsTer13
XM_011522526.1:c.7290_7294del (PKD1)	XP_011520828.1:p.Trp2431CysfsTer13
XM_011522527.1:c.7290_7294del (PKD1)	XP_011520829.1:p.Trp2431CysfsTer13
XM_011522528.1:c.7266_7270del (PKD1)	XP_011520830.1:p.Trp2423CysfsTer13
XM_011522529.1:c.7266_7270del (PKD1)	XP_011520831.1:p.Trp2423CysfsTer13
XM_011522530.1:c.7236_7240del (PKD1)	XP_011520832.1:p.Trp2413CysfsTer13
XM_011522531.1:c.7218_7222del (PKD1)	XP_011520833.1:p.Trp2407CysfsTer13
XM_011522532.1:c.7164_7168del (PKD1)	XP_011520834.1:p.Trp2389CysfsTer13
XM_011522533.1:c.7083_7087del (PKD1)	XP_011520835.1:p.Trp2362CysfsTer13
XM_011522534.1:c.7026_7030del (PKD1)	XP_011520836.1:p.Trp2343CysfsTer13
XM_011522535.1:c.5112_5116del (PKD1)	XP_011520837.1:p.Trp1705CysfsTer13
XM_011522536.1:c.7290_7294del (PKD1)	XP_011520838.1:p.Trp2431CysfsTer13
XM_011522537.1:c.4290_4294del (PKD1)	XP_011520839.1:p.Trp1431CysfsTer13
XR_932867.1:n.7305_7309del (PKD1)
XR_932868.1:n.7305_7309del (PKD1)
XR_932869.1:n.7305_7309del (PKD1)
XR_932870.1:n.7305_7309del (PKD1)
XM_005255370.3:c.4167_4171del (PKD1)	XP_005255427.1:p.Trp1390CysfsTer13
XM_011522528.3:c.7266_7270del (PKD1)	XP_011520830.1:p.Trp2423CysfsTer13
XM_011522529.2:c.7266_7270del (PKD1)	XP_011520831.1:p.Trp2423CysfsTer13
XM_011522537.2:c.4290_4294del (PKD1)	XP_011520839.1:p.Trp1431CysfsTer13
XM_024450298.1:c.7332_7336del (PKD1)	XP_024306066.1:p.Trp2445CysfsTer13
XM_024450299.1:c.7260_7264del (PKD1)	XP_024306067.1:p.Trp2421CysfsTer13
XM_024450300.1:c.7122_7126del (PKD1)	XP_024306068.1:p.Trp2375CysfsTer13
XM_024450301.1:c.5208_5212del (PKD1)	XP_024306069.1:p.Trp1737CysfsTer13
NM_000296.4:c.7212_7216del (PKD1)	NP_000287.4:p.Trp2405CysfsTer13
NM_001009944.3:c.7212_7216del (PKD1) MANE Select	NP_001009944.3:p.Trp2405CysfsTer13