Canonical Allele Identifier: CA16609451
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 397614
ClinVar RCV Id: RCV000449570
dbSNP Id: rs1060499718
MyVariant Identifiers: chr16:g.2140419_2140420del (hg19) chr16:g.2090418_2090419del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090419_2090420del , CM000678.2:g.2090419_2090420del GRCh38
NC_000016.9:g.2140420_2140421del , CM000678.1:g.2140420_2140421del GRCh37
NC_000016.8:g.2080421_2080422del NCBI36
NG_005895.1:g.46114_46115del , LRG_487:g.46114_46115del
NG_008617.1:g.52802_52803del

Transcript Alleles

HGVS Amino-acid change
ENST00000262304.9:c.12310_12311del MANE Select ENSP00000262304.4:p.Val4104TyrfsTer?
ENST00000262304.8:c.12310_12311del ENSP00000262304.4:p.Val4104TyrfsTer?
ENST00000423118.5:c.12307_12308del ENSP00000399501.1:p.Val4103TyrfsTer?
ENST00000472577.1:n.338_339del
NM_000296.3:c.12307_12308del NP_000287.3:p.Val4103TyrfsTer?
NM_001009944.2:c.12310_12311del NP_001009944.2:p.Val4104TyrfsTer?
XM_005255370.2:c.9265_9266del XP_005255427.1:p.Val3089TyrfsTer?
XM_011522525.1:c.12388_12389del XP_011520827.1:p.Val4130TyrfsTer?
XM_011522526.1:c.12385_12386del XP_011520828.1:p.Val4129TyrfsTer?
XM_011522527.1:c.12370_12371del XP_011520829.1:p.Val4124TyrfsTer?
XM_011522528.1:c.12364_12365del XP_011520830.1:p.Val4122TyrfsTer?
XM_011522529.1:c.12361_12362del XP_011520831.1:p.Val4121TyrfsTer?
XM_011522530.1:c.12334_12335del XP_011520832.1:p.Val4112TyrfsTer?
XM_011522531.1:c.12316_12317del XP_011520833.1:p.Val4106TyrfsTer?
XM_011522532.1:c.12262_12263del XP_011520834.1:p.Val4088TyrfsTer?
XM_011522533.1:c.12181_12182del XP_011520835.1:p.Val4061TyrfsTer?
XM_011522534.1:c.12124_12125del XP_011520836.1:p.Val4042TyrfsTer?
XM_011522535.1:c.10210_10211del XP_011520837.1:p.Val3404TyrfsTer?
XM_011522537.1:c.9388_9389del XP_011520839.1:p.Val3130TyrfsTer?
XR_932867.1:n.12228_12229del
XM_005255370.3:c.9265_9266del XP_005255427.1:p.Val3089TyrfsTer?
XM_011522528.3:c.12364_12365del XP_011520830.1:p.Val4122TyrfsTer?
XM_011522529.2:c.12361_12362del XP_011520831.1:p.Val4121TyrfsTer?
XM_011522537.2:c.9388_9389del XP_011520839.1:p.Val3130TyrfsTer?
XM_024450298.1:c.12430_12431del XP_024306066.1:p.Val4144TyrfsTer?
XM_024450299.1:c.12358_12359del XP_024306067.1:p.Val4120TyrfsTer?
XM_024450300.1:c.12220_12221del XP_024306068.1:p.Val4074TyrfsTer?
XM_024450301.1:c.10306_10307del XP_024306069.1:p.Val3436TyrfsTer?
NM_000296.4:c.12307_12308del NP_000287.4:p.Val4103TyrfsTer?
NM_001009944.3:c.12310_12311del MANE Select NP_001009944.3:p.Val4104TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'