Canonical Allele Identifier: CA2575877798
Gene: PKD1 HGNC NCBI
PKD1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2092587_2092588del , CM000678.2:g.2092587_2092588del GRCh38
NC_000016.9:g.2142588_2142589del , CM000678.1:g.2142588_2142589del GRCh37
NC_000016.8:g.2082589_2082590del NCBI36
NG_008617.1:g.50634_50635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.11162_11163del (PKD1) MANE Select ENSP00000262304.4:p.Glu3721GlyfsTer?
ENST00000262304.8:c.11162_11163del (PKD1) ENSP00000262304.4:p.Glu3721GlyfsTer?
ENST00000423118.5:c.11159_11160del (PKD1) ENSP00000399501.1:p.Glu3720GlyfsTer?
ENST00000485120.1:n.11_12del (PKD1)
ENST00000487932.5:c.5724_5725del (PKD1) ENSP00000457132.1:n.5724_5725del
ENST00000562425.1:c.275_276del (PKD1)
ENST00000567355.1:n.325_326del (PKD1)
NM_000296.3:c.11159_11160del (PKD1) NP_000287.3:p.Glu3720GlyfsTer?
NM_001009944.2:c.11162_11163del (PKD1) NP_001009944.2:p.Glu3721GlyfsTer?
XM_005255370.2:c.8117_8118del (PKD1) XP_005255427.1:p.Glu2706GlyfsTer?
XM_011522525.1:c.11240_11241del (PKD1) XP_011520827.1:p.Glu3747GlyfsTer?
XM_011522526.1:c.11237_11238del (PKD1) XP_011520828.1:p.Glu3746GlyfsTer?
XM_011522527.1:c.11222_11223del (PKD1) XP_011520829.1:p.Glu3741GlyfsTer?
XM_011522528.1:c.11216_11217del (PKD1) XP_011520830.1:p.Glu3739GlyfsTer?
XM_011522529.1:c.11213_11214del (PKD1) XP_011520831.1:p.Glu3738GlyfsTer?
XM_011522530.1:c.11186_11187del (PKD1) XP_011520832.1:p.Glu3729GlyfsTer?
XM_011522531.1:c.11168_11169del (PKD1) XP_011520833.1:p.Glu3723GlyfsTer?
XM_011522532.1:c.11114_11115del (PKD1) XP_011520834.1:p.Glu3705GlyfsTer?
XM_011522533.1:c.11033_11034del (PKD1) XP_011520835.1:p.Glu3678GlyfsTer?
XM_011522534.1:c.10976_10977del (PKD1) XP_011520836.1:p.Glu3659GlyfsTer?
XM_011522535.1:c.9062_9063del (PKD1) XP_011520837.1:p.Glu3021GlyfsTer?
XM_011522537.1:c.8240_8241del (PKD1) XP_011520839.1:p.Glu2747GlyfsTer?
XR_932867.1:n.11255_11256del (PKD1)
XR_932868.1:n.11110-399_11110-398del (PKD1)
XR_932869.1:n.11110-399_11110-398del (PKD1)
XR_932870.1:n.11115_11116del (PKD1)
XR_933000.1:n.90-302_90-301del (PKD1-AS1)
XR_933001.1:n.180-302_180-301del (PKD1-AS1)
XR_933002.1:n.89-302_89-301del (PKD1-AS1)
XR_933003.1:n.89-302_89-301del (PKD1-AS1)
NR_135175.1:n.180-302_180-301del (PKD1-AS1)
XM_005255370.3:c.8117_8118del (PKD1) XP_005255427.1:p.Glu2706GlyfsTer?
XM_011522528.3:c.11216_11217del (PKD1) XP_011520830.1:p.Glu3739GlyfsTer?
XM_011522529.2:c.11213_11214del (PKD1) XP_011520831.1:p.Glu3738GlyfsTer?
XM_011522537.2:c.8240_8241del (PKD1) XP_011520839.1:p.Glu2747GlyfsTer?
XM_024450298.1:c.11282_11283del (PKD1) XP_024306066.1:p.Glu3761GlyfsTer?
XM_024450299.1:c.11210_11211del (PKD1) XP_024306067.1:p.Glu3737GlyfsTer?
XM_024450300.1:c.11072_11073del (PKD1) XP_024306068.1:p.Glu3691GlyfsTer?
XM_024450301.1:c.9158_9159del (PKD1) XP_024306069.1:p.Glu3053GlyfsTer?
NM_000296.4:c.11159_11160del (PKD1) NP_000287.4:p.Glu3720GlyfsTer?
NM_001009944.3:c.11162_11163del (PKD1) MANE Select NP_001009944.3:p.Glu3721GlyfsTer?