Canonical Allele Identifier: CA2762537695

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046989_88046990insCCCAAACACACCCAAC , CM000666.2:g.88046989_88046990insCCCAAACACACCCAAC	GRCh38
NC_000004.11:g.88968141_88968142insCCCAAACACACCCAAC , CM000666.1:g.88968141_88968142insCCCAAACACACCCAAC	GRCh37
NC_000004.10:g.89187165_89187166insCCCAAACACACCCAAC	NCBI36
NG_008604.1:g.44322_44323insCCCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+119_1548+120insCCCAAACACACCCAAC MANE Select	ENSP00000237596.2:n.1548+119_1548+120insCCCAAACACACCCAAC
ENST00000237596.6:c.1548+119_1548+120insCCCAAACACACCCAAC	ENSP00000237596.2:n.1548+119_1548+120insCCCAAACACACCCAAC
ENST00000508588.5:c.-199+3532_-199+3533insCCCAAACACACCCAAC	ENSP00000427131.1:n.-199+3532_-199+3533insCCCAAACACACCCAAC
NM_000297.3:c.1548+119_1548+120insCCCAAACACACCCAAC	NP_000288.1:n.1548+119_1548+120insCCCAAACACACCCAAC
XM_011532028.1:c.1323+119_1323+120insCCCAAACACACCCAAC	XP_011530330.1:n.1323+119_1323+120insCCCAAACACACCCAAC
XM_011532029.1:c.828+119_828+120insCCCAAACACACCCAAC	XP_011530331.1:n.828+119_828+120insCCCAAACACACCCAAC
XM_011532030.1:c.708+119_708+120insCCCAAACACACCCAAC	XP_011530332.1:n.708+119_708+120insCCCAAACACACCCAAC
XR_244632.2:n.1643+119_1643+120insCCCAAACACACCCAAC
NR_156488.1:n.1635+119_1635+120insCCCAAACACACCCAAC
XM_011532028.2:c.1323+119_1323+120insCCCAAACACACCCAAC	XP_011530330.1:n.1323+119_1323+120insCCCAAACACACCCAAC
XM_011532030.2:c.708+119_708+120insCCCAAACACACCCAAC	XP_011530332.1:n.708+119_708+120insCCCAAACACACCCAAC
NM_000297.4:c.1548+119_1548+120insCCCAAACACACCCAAC MANE Select	NP_000288.1:n.1548+119_1548+120insCCCAAACACACCCAAC
NR_156488.2:n.1647+119_1647+120insCCCAAACACACCCAAC