Canonical Allele Identifier: CA2695221551

Gene: PKD1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090502_2090521dup , CM000678.2:g.2090502_2090521dup	GRCh38
NC_000016.9:g.2140503_2140522dup , CM000678.1:g.2140503_2140522dup	GRCh37
NC_000016.8:g.2080504_2080523dup	NCBI36
NG_005895.1:g.46197_46216dup , LRG_487:g.46197_46216dup
NG_008617.1:g.52700_52719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12208_12227dup MANE Select	ENSP00000262304.4:p.Ala4077GlyfsTer?
ENST00000262304.8:c.12208_12227dup	ENSP00000262304.4:p.Ala4077GlyfsTer?
ENST00000423118.5:c.12205_12224dup	ENSP00000399501.1:p.Ala4076GlyfsTer?
ENST00000472577.1:n.236_255dup
NM_000296.3:c.12205_12224dup	NP_000287.3:p.Ala4076GlyfsTer?
NM_001009944.2:c.12208_12227dup	NP_001009944.2:p.Ala4077GlyfsTer?
XM_005255370.2:c.9163_9182dup	XP_005255427.1:p.Ala3062GlyfsTer?
XM_011522525.1:c.12286_12305dup	XP_011520827.1:p.Ala4103GlyfsTer?
XM_011522526.1:c.12283_12302dup	XP_011520828.1:p.Ala4102GlyfsTer?
XM_011522527.1:c.12268_12287dup	XP_011520829.1:p.Ala4097GlyfsTer?
XM_011522528.1:c.12262_12281dup	XP_011520830.1:p.Ala4095GlyfsTer?
XM_011522529.1:c.12259_12278dup	XP_011520831.1:p.Ala4094GlyfsTer?
XM_011522530.1:c.12232_12251dup	XP_011520832.1:p.Ala4085GlyfsTer?
XM_011522531.1:c.12214_12233dup	XP_011520833.1:p.Ala4079GlyfsTer?
XM_011522532.1:c.12160_12179dup	XP_011520834.1:p.Ala4061GlyfsTer?
XM_011522533.1:c.12079_12098dup	XP_011520835.1:p.Ala4034GlyfsTer?
XM_011522534.1:c.12022_12041dup	XP_011520836.1:p.Ala4015GlyfsTer?
XM_011522535.1:c.10108_10127dup	XP_011520837.1:p.Ala3377GlyfsTer?
XM_011522537.1:c.9286_9305dup	XP_011520839.1:p.Ala3103GlyfsTer?
XR_932867.1:n.12126_12145dup
XM_005255370.3:c.9163_9182dup	XP_005255427.1:p.Ala3062GlyfsTer?
XM_011522528.3:c.12262_12281dup	XP_011520830.1:p.Ala4095GlyfsTer?
XM_011522529.2:c.12259_12278dup	XP_011520831.1:p.Ala4094GlyfsTer?
XM_011522537.2:c.9286_9305dup	XP_011520839.1:p.Ala3103GlyfsTer?
XM_024450298.1:c.12328_12347dup	XP_024306066.1:p.Ala4117GlyfsTer?
XM_024450299.1:c.12256_12275dup	XP_024306067.1:p.Ala4093GlyfsTer?
XM_024450300.1:c.12118_12137dup	XP_024306068.1:p.Ala4047GlyfsTer?
XM_024450301.1:c.10204_10223dup	XP_024306069.1:p.Ala3409GlyfsTer?
NM_000296.4:c.12205_12224dup	NP_000287.4:p.Ala4076GlyfsTer?
NM_001009944.3:c.12208_12227dup MANE Select	NP_001009944.3:p.Ala4077GlyfsTer?