Canonical Allele Identifier: CA1474579655
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046891_88046896delinsAAATTT , CM000666.2:g.88046891_88046896delinsAAATTT GRCh38
NC_000004.11:g.88968043_88968048delinsAAATTT , CM000666.1:g.88968043_88968048delinsAAATTT GRCh37
NC_000004.10:g.89187067_89187072delinsAAATTT NCBI36
NG_008604.1:g.44224_44229delinsAAATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1548+21_1548+26delinsAAATTT MANE Select ENSP00000237596.2:n.1548+21_1548+26delinsAAATTT
ENST00000237596.6:c.1548+21_1548+26delinsAAATTT ENSP00000237596.2:n.1548+21_1548+26delinsAAATTT
ENST00000508588.5:c.-199+3434_-199+3439delinsAAATTT ENSP00000427131.1:n.-199+3434_-199+3439delinsAAATTT
NM_000297.3:c.1548+21_1548+26delinsAAATTT NP_000288.1:n.1548+21_1548+26delinsAAATTT
XM_011532028.1:c.1323+21_1323+26delinsAAATTT XP_011530330.1:n.1323+21_1323+26delinsAAATTT
XM_011532029.1:c.828+21_828+26delinsAAATTT XP_011530331.1:n.828+21_828+26delinsAAATTT
XM_011532030.1:c.708+21_708+26delinsAAATTT XP_011530332.1:n.708+21_708+26delinsAAATTT
XR_244632.2:n.1643+21_1643+26delinsAAATTT
NR_156488.1:n.1635+21_1635+26delinsAAATTT
XM_011532028.2:c.1323+21_1323+26delinsAAATTT XP_011530330.1:n.1323+21_1323+26delinsAAATTT
XM_011532030.2:c.708+21_708+26delinsAAATTT XP_011530332.1:n.708+21_708+26delinsAAATTT
NM_000297.4:c.1548+21_1548+26delinsAAATTT MANE Select NP_000288.1:n.1548+21_1548+26delinsAAATTT
NR_156488.2:n.1647+21_1647+26delinsAAATTT