Canonical Allele Identifier: CA2805574407

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090516_2090518del , CM000678.2:g.2090516_2090518del	GRCh38
NC_000016.9:g.2140517_2140519del , CM000678.1:g.2140517_2140519del	GRCh37
NC_000016.8:g.2080518_2080520del	NCBI36
NG_005895.1:g.46211_46213del , LRG_487:g.46211_46213del
NG_008617.1:g.52703_52705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12211_12213del MANE Select	ENSP00000262304.4:p.Leu4071del
ENST00000262304.8:c.12211_12213del	ENSP00000262304.4:p.Leu4071del
ENST00000423118.5:c.12208_12210del	ENSP00000399501.1:p.Leu4070del
ENST00000472577.1:n.239_241del
NM_000296.3:c.12208_12210del	NP_000287.3:p.Leu4070del
NM_001009944.2:c.12211_12213del	NP_001009944.2:p.Leu4071del
XM_005255370.2:c.9166_9168del	XP_005255427.1:p.Leu3056del
XM_011522525.1:c.12289_12291del	XP_011520827.1:p.Leu4097del
XM_011522526.1:c.12286_12288del	XP_011520828.1:p.Leu4096del
XM_011522527.1:c.12271_12273del	XP_011520829.1:p.Leu4091del
XM_011522528.1:c.12265_12267del	XP_011520830.1:p.Leu4089del
XM_011522529.1:c.12262_12264del	XP_011520831.1:p.Leu4088del
XM_011522530.1:c.12235_12237del	XP_011520832.1:p.Leu4079del
XM_011522531.1:c.12217_12219del	XP_011520833.1:p.Leu4073del
XM_011522532.1:c.12163_12165del	XP_011520834.1:p.Leu4055del
XM_011522533.1:c.12082_12084del	XP_011520835.1:p.Leu4028del
XM_011522534.1:c.12025_12027del	XP_011520836.1:p.Leu4009del
XM_011522535.1:c.10111_10113del	XP_011520837.1:p.Leu3371del
XM_011522537.1:c.9289_9291del	XP_011520839.1:p.Leu3097del
XR_932867.1:n.12129_12131del
XM_005255370.3:c.9166_9168del	XP_005255427.1:p.Leu3056del
XM_011522528.3:c.12265_12267del	XP_011520830.1:p.Leu4089del
XM_011522529.2:c.12262_12264del	XP_011520831.1:p.Leu4088del
XM_011522537.2:c.9289_9291del	XP_011520839.1:p.Leu3097del
XM_024450298.1:c.12331_12333del	XP_024306066.1:p.Leu4111del
XM_024450299.1:c.12259_12261del	XP_024306067.1:p.Leu4087del
XM_024450300.1:c.12121_12123del	XP_024306068.1:p.Leu4041del
XM_024450301.1:c.10207_10209del	XP_024306069.1:p.Leu3403del
NM_000296.4:c.12208_12210del	NP_000287.4:p.Leu4070del
NM_001009944.3:c.12211_12213del MANE Select	NP_001009944.3:p.Leu4071del