Canonical Allele Identifier: CA2631131514

Gene: PKD1 PKD1-AS1

Linked Data

• gnomAD v4: 16-2092379-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2092384_2092385del , CM000678.2:g.2092384_2092385del	GRCh38
NC_000016.9:g.2142385_2142386del , CM000678.1:g.2142385_2142386del	GRCh37
NC_000016.8:g.2082386_2082387del	NCBI36
NG_008617.1:g.50840_50841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.11269+99_11269+100del (PKD1) MANE Select	ENSP00000262304.4:n.11269+99_11269+100del
ENST00000262304.8:c.11269+99_11269+100del (PKD1)	ENSP00000262304.4:n.11269+99_11269+100del
ENST00000423118.5:c.11266+99_11266+100del (PKD1)	ENSP00000399501.1:n.11266+99_11266+100del
ENST00000485120.1:n.118+99_118+100del (PKD1)
ENST00000487932.5:c.5831+99_5831+100del (PKD1)	ENSP00000457132.1:n.5831+99_5831+100del
ENST00000562425.1:c.382+99_382+100del (PKD1)
ENST00000567355.1:n.432+99_432+100del (PKD1)
NM_000296.3:c.11266+99_11266+100del (PKD1)	NP_000287.3:n.11266+99_11266+100del
NM_001009944.2:c.11269+99_11269+100del (PKD1)	NP_001009944.2:n.11269+99_11269+100del
XM_005255370.2:c.8224+99_8224+100del (PKD1)	XP_005255427.1:n.8224+99_8224+100del
XM_011522525.1:c.11347+99_11347+100del (PKD1)	XP_011520827.1:n.11347+99_11347+100del
XM_011522526.1:c.11344+99_11344+100del (PKD1)	XP_011520828.1:n.11344+99_11344+100del
XM_011522527.1:c.11329+99_11329+100del (PKD1)	XP_011520829.1:n.11329+99_11329+100del
XM_011522528.1:c.11323+99_11323+100del (PKD1)	XP_011520830.1:n.11323+99_11323+100del
XM_011522529.1:c.11320+99_11320+100del (PKD1)	XP_011520831.1:n.11320+99_11320+100del
XM_011522530.1:c.11293+99_11293+100del (PKD1)	XP_011520832.1:n.11293+99_11293+100del
XM_011522531.1:c.11275+99_11275+100del (PKD1)	XP_011520833.1:n.11275+99_11275+100del
XM_011522532.1:c.11221+99_11221+100del (PKD1)	XP_011520834.1:n.11221+99_11221+100del
XM_011522533.1:c.11140+99_11140+100del (PKD1)	XP_011520835.1:n.11140+99_11140+100del
XM_011522534.1:c.11083+99_11083+100del (PKD1)	XP_011520836.1:n.11083+99_11083+100del
XM_011522535.1:c.9169+99_9169+100del (PKD1)	XP_011520837.1:n.9169+99_9169+100del
XM_011522537.1:c.8347+99_8347+100del (PKD1)	XP_011520839.1:n.8347+99_8347+100del
XR_932867.1:n.11362+99_11362+100del (PKD1)
XR_932868.1:n.11110-193_11110-192del (PKD1)
XR_932869.1:n.11110-193_11110-192del (PKD1)
XR_932870.1:n.11222+99_11222+100del (PKD1)
XR_933000.1:n.90-505_90-504del (PKD1-AS1)
XR_933001.1:n.180-505_180-504del (PKD1-AS1)
XR_933002.1:n.89-505_89-504del (PKD1-AS1)
XR_933003.1:n.89-505_89-504del (PKD1-AS1)
NR_135175.1:n.180-505_180-504del (PKD1-AS1)
XM_005255370.3:c.8224+99_8224+100del (PKD1)	XP_005255427.1:n.8224+99_8224+100del
XM_011522528.3:c.11323+99_11323+100del (PKD1)	XP_011520830.1:n.11323+99_11323+100del
XM_011522529.2:c.11320+99_11320+100del (PKD1)	XP_011520831.1:n.11320+99_11320+100del
XM_011522537.2:c.8347+99_8347+100del (PKD1)	XP_011520839.1:n.8347+99_8347+100del
XM_024450298.1:c.11389+99_11389+100del (PKD1)	XP_024306066.1:n.11389+99_11389+100del
XM_024450299.1:c.11317+99_11317+100del (PKD1)	XP_024306067.1:n.11317+99_11317+100del
XM_024450300.1:c.11179+99_11179+100del (PKD1)	XP_024306068.1:n.11179+99_11179+100del
XM_024450301.1:c.9265+99_9265+100del (PKD1)	XP_024306069.1:n.9265+99_9265+100del
NM_000296.4:c.11266+99_11266+100del (PKD1)	NP_000287.4:n.11266+99_11266+100del
NM_001009944.3:c.11269+99_11269+100del (PKD1) MANE Select	NP_001009944.3:n.11269+99_11269+100del