Canonical Allele Identifier: CA2695222557

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114544_2114568del , CM000678.2:g.2114544_2114568del	GRCh38
NC_000016.9:g.2164545_2164569del , CM000678.1:g.2164545_2164569del	GRCh37
NC_000016.8:g.2104546_2104570del	NCBI36
NG_008617.1:g.26333_26357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.2457_2481del MANE Select	ENSP00000262304.4:p.Pro820ThrfsTer?
ENST00000262304.8:c.2457_2481del	ENSP00000262304.4:p.Pro820ThrfsTer?
ENST00000423118.5:c.2457_2481del	ENSP00000399501.1:p.Pro820ThrfsTer?
ENST00000488185.2:c.472+2923_472+2947del
ENST00000568591.5:c.1388_1412del	ENSP00000457162.1:n.1388_1412del
NM_000296.3:c.2457_2481del	NP_000287.3:p.Pro820ThrfsTer?
NM_001009944.2:c.2457_2481del	NP_001009944.2:p.Pro820ThrfsTer?
XM_011522525.1:c.2511_2535del	XP_011520827.1:p.Pro838ThrfsTer?
XM_011522526.1:c.2511_2535del	XP_011520828.1:p.Pro838ThrfsTer?
XM_011522527.1:c.2511_2535del	XP_011520829.1:p.Pro838ThrfsTer?
XM_011522528.1:c.2511_2535del	XP_011520830.1:p.Pro838ThrfsTer?
XM_011522529.1:c.2511_2535del	XP_011520831.1:p.Pro838ThrfsTer?
XM_011522530.1:c.2457_2481del	XP_011520832.1:p.Pro820ThrfsTer?
XM_011522531.1:c.2439_2463del	XP_011520833.1:p.Pro814ThrfsTer?
XM_011522532.1:c.2385_2409del	XP_011520834.1:p.Pro796ThrfsTer?
XM_011522533.1:c.2304_2328del	XP_011520835.1:p.Pro769ThrfsTer?
XM_011522534.1:c.2247_2271del	XP_011520836.1:p.Pro750ThrfsTer?
XM_011522535.1:c.333_357del	XP_011520837.1:p.Pro112ThrfsTer?
XM_011522536.1:c.2511_2535del	XP_011520838.1:p.Pro838ThrfsTer?
XR_932867.1:n.2526_2550del
XR_932868.1:n.2526_2550del
XR_932869.1:n.2526_2550del
XR_932870.1:n.2526_2550del
XM_005255370.3:c.-593_-569del	XP_005255427.1:n.-593_-569del
XM_011522528.3:c.2511_2535del	XP_011520830.1:p.Pro838ThrfsTer?
XM_011522529.2:c.2511_2535del	XP_011520831.1:p.Pro838ThrfsTer?
XM_024450298.1:c.2457_2481del	XP_024306066.1:p.Pro820ThrfsTer?
XM_024450299.1:c.2385_2409del	XP_024306067.1:p.Pro796ThrfsTer?
XM_024450300.1:c.2247_2271del	XP_024306068.1:p.Pro750ThrfsTer?
XM_024450301.1:c.333_357del	XP_024306069.1:p.Pro112ThrfsTer?
NM_000296.4:c.2457_2481del	NP_000287.4:p.Pro820ThrfsTer?
NM_001009944.3:c.2457_2481del MANE Select	NP_001009944.3:p.Pro820ThrfsTer?