Canonical Allele Identifier: CA2580090947

Gene: PKD1

Linked Data

• ClinVar Variation Id: 1694782
• ClinVar RCV Id: RCV002262502
• dbSNP Id: rs2151774462

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2106542dup , CM000678.2:g.2106542dup	GRCh38
NC_000016.9:g.2156543dup , CM000678.1:g.2156543dup	GRCh37
NC_000016.8:g.2096544dup	NCBI36
NG_008617.1:g.34357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.7345dup MANE Select	ENSP00000262304.4:p.Thr2449AsnfsTer?
ENST00000262304.8:c.7345dup	ENSP00000262304.4:p.Thr2449AsnfsTer?
ENST00000415938.7:n.590dup
ENST00000423118.5:c.7345dup	ENSP00000399501.1:p.Thr2449AsnfsTer?
ENST00000483558.5:n.404dup
ENST00000483731.5:n.1070dup
ENST00000486339.6:n.1091dup
ENST00000487932.5:c.2032dup	ENSP00000457132.1:p.Thr678AsnfsTer?
ENST00000496574.6:n.1348dup
ENST00000565639.6:n.1053dup
ENST00000568591.5:c.2506dup	ENSP00000457162.1:n.2506dup
ENST00000569983.5:n.701dup
NM_000296.3:c.7345dup	NP_000287.3:p.Thr2449AsnfsTer?
NM_001009944.2:c.7345dup	NP_001009944.2:p.Thr2449AsnfsTer?
XM_005255370.2:c.4300dup	XP_005255427.1:p.Thr1434AsnfsTer?
XM_011522525.1:c.7423dup	XP_011520827.1:p.Thr2475AsnfsTer?
XM_011522526.1:c.7423dup	XP_011520828.1:p.Thr2475AsnfsTer?
XM_011522527.1:c.7423dup	XP_011520829.1:p.Thr2475AsnfsTer?
XM_011522528.1:c.7399dup	XP_011520830.1:p.Thr2467AsnfsTer?
XM_011522529.1:c.7399dup	XP_011520831.1:p.Thr2467AsnfsTer?
XM_011522530.1:c.7369dup	XP_011520832.1:p.Thr2457AsnfsTer?
XM_011522531.1:c.7351dup	XP_011520833.1:p.Thr2451AsnfsTer?
XM_011522532.1:c.7297dup	XP_011520834.1:p.Thr2433AsnfsTer?
XM_011522533.1:c.7216dup	XP_011520835.1:p.Thr2406AsnfsTer?
XM_011522534.1:c.7159dup	XP_011520836.1:p.Thr2387AsnfsTer?
XM_011522535.1:c.5245dup	XP_011520837.1:p.Thr1749AsnfsTer?
XM_011522536.1:c.7423dup	XP_011520838.1:p.Thr2475AsnfsTer?
XM_011522537.1:c.4423dup	XP_011520839.1:p.Thr1475AsnfsTer?
XR_932867.1:n.7438dup
XR_932868.1:n.7438dup
XR_932869.1:n.7438dup
XR_932870.1:n.7438dup
XM_005255370.3:c.4300dup	XP_005255427.1:p.Thr1434AsnfsTer?
XM_011522528.3:c.7399dup	XP_011520830.1:p.Thr2467AsnfsTer?
XM_011522529.2:c.7399dup	XP_011520831.1:p.Thr2467AsnfsTer?
XM_011522537.2:c.4423dup	XP_011520839.1:p.Thr1475AsnfsTer?
XM_024450298.1:c.7465dup	XP_024306066.1:p.Thr2489AsnfsTer?
XM_024450299.1:c.7393dup	XP_024306067.1:p.Thr2465AsnfsTer?
XM_024450300.1:c.7255dup	XP_024306068.1:p.Thr2419AsnfsTer?
XM_024450301.1:c.5341dup	XP_024306069.1:p.Thr1781AsnfsTer?
NM_000296.4:c.7345dup	NP_000287.4:p.Thr2449AsnfsTer?
NM_001009944.3:c.7345dup MANE Select	NP_001009944.3:p.Thr2449AsnfsTer?