Canonical Allele Identifier: CA2202050256

Gene: PKD1

Linked Data

• dbSNP Id: rs2092612941
• gnomAD v4: 16-2115297-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2115300_2115301del , CM000678.2:g.2115300_2115301del	GRCh38
NC_000016.9:g.2165301_2165302del , CM000678.1:g.2165301_2165302del	GRCh37
NC_000016.8:g.2105302_2105303del	NCBI36
NG_008617.1:g.25600_25601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2097+79_2097+80del MANE Select	ENSP00000262304.4:n.2097+79_2097+80del
ENST00000262304.8:c.2097+79_2097+80del	ENSP00000262304.4:n.2097+79_2097+80del
ENST00000423118.5:c.2097+79_2097+80del	ENSP00000399501.1:n.2097+79_2097+80del
ENST00000488185.2:c.472+2190_472+2191del
ENST00000568591.5:c.1028+79_1028+80del	ENSP00000457162.1:n.1028+79_1028+80del
NM_000296.3:c.2097+79_2097+80del	NP_000287.3:n.2097+79_2097+80del
NM_001009944.2:c.2097+79_2097+80del	NP_001009944.2:n.2097+79_2097+80del
XM_011522525.1:c.2151+79_2151+80del	XP_011520827.1:n.2151+79_2151+80del
XM_011522526.1:c.2151+79_2151+80del	XP_011520828.1:n.2151+79_2151+80del
XM_011522527.1:c.2151+79_2151+80del	XP_011520829.1:n.2151+79_2151+80del
XM_011522528.1:c.2151+79_2151+80del	XP_011520830.1:n.2151+79_2151+80del
XM_011522529.1:c.2151+79_2151+80del	XP_011520831.1:n.2151+79_2151+80del
XM_011522530.1:c.2097+79_2097+80del	XP_011520832.1:n.2097+79_2097+80del
XM_011522531.1:c.2079+79_2079+80del	XP_011520833.1:n.2079+79_2079+80del
XM_011522532.1:c.2025+79_2025+80del	XP_011520834.1:n.2025+79_2025+80del
XM_011522533.1:c.1944+79_1944+80del	XP_011520835.1:n.1944+79_1944+80del
XM_011522534.1:c.1887+79_1887+80del	XP_011520836.1:n.1887+79_1887+80del
XM_011522535.1:c.-292_-291del	XP_011520837.1:n.-292_-291del
XM_011522536.1:c.2151+79_2151+80del	XP_011520838.1:n.2151+79_2151+80del
XR_932867.1:n.2166+79_2166+80del
XR_932868.1:n.2166+79_2166+80del
XR_932869.1:n.2166+79_2166+80del
XR_932870.1:n.2166+79_2166+80del
XM_011522528.3:c.2151+79_2151+80del	XP_011520830.1:n.2151+79_2151+80del
XM_011522529.2:c.2151+79_2151+80del	XP_011520831.1:n.2151+79_2151+80del
XM_024450298.1:c.2097+79_2097+80del	XP_024306066.1:n.2097+79_2097+80del
XM_024450299.1:c.2025+79_2025+80del	XP_024306067.1:n.2025+79_2025+80del
XM_024450300.1:c.1887+79_1887+80del	XP_024306068.1:n.1887+79_1887+80del
XM_024450301.1:c.-292_-291del	XP_024306069.1:n.-292_-291del
NM_000296.4:c.2097+79_2097+80del	NP_000287.4:n.2097+79_2097+80del
NM_001009944.3:c.2097+79_2097+80del MANE Select	NP_001009944.3:n.2097+79_2097+80del