Canonical Allele Identifier: CA2339042150
Gene: PRKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46704788_46704791delinsCACT , CM000681.2:g.46704788_46704791delinsCACT GRCh38
NC_000019.9:g.47208045_47208048delinsCACT , CM000681.1:g.47208045_47208048delinsCACT GRCh37
NC_000019.8:g.51899885_51899888delinsCACT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291281.9:c.512-142_512-139delinsAGTG MANE Select ENSP00000291281.3:n.512-142_512-139delinsAGTG
ENST00000291281.8:c.512-142_512-139delinsAGTG ENSP00000291281.3:n.512-142_512-139delinsAGTG
ENST00000433867.5:c.512-142_512-139delinsAGTG ENSP00000393978.1:n.512-142_512-139delinsAGTG
ENST00000595132.5:c.41-142_41-139delinsAGTG ENSP00000470363.1:n.41-142_41-139delinsAGTG
ENST00000595515.5:c.512-142_512-139delinsAGTG ENSP00000470804.1:n.512-142_512-139delinsAGTG
ENST00000597641.1:c.247-142_247-139delinsAGTG ENSP00000469064.1:n.247-142_247-139delinsAGTG
ENST00000598633.1:c.41-142_41-139delinsAGTG ENSP00000470919.1:n.41-142_41-139delinsAGTG
ENST00000600194.5:c.41-142_41-139delinsAGTG ENSP00000472744.1:n.41-142_41-139delinsAGTG
ENST00000601605.5:c.41-3679_41-3676delinsAGTG ENSP00000470442.1:n.41-3679_41-3676delinsAGTG
ENST00000601806.5:c.41-142_41-139delinsAGTG ENSP00000469106.1:n.41-142_41-139delinsAGTG
NM_001079880.1:c.512-142_512-139delinsAGTG NP_001073349.1:n.512-142_512-139delinsAGTG
NM_001079881.1:c.512-142_512-139delinsAGTG NP_001073350.1:n.512-142_512-139delinsAGTG
NM_001079882.1:c.41-142_41-139delinsAGTG NP_001073351.1:n.41-142_41-139delinsAGTG
NM_016457.4:c.512-142_512-139delinsAGTG NP_057541.2:n.512-142_512-139delinsAGTG
XM_005258716.2:c.41-142_41-139delinsAGTG XP_005258773.2:n.41-142_41-139delinsAGTG
NM_001079880.2:c.512-142_512-139delinsAGTG NP_001073349.1:n.512-142_512-139delinsAGTG
NM_001079881.2:c.512-142_512-139delinsAGTG NP_001073350.1:n.512-142_512-139delinsAGTG
NM_001079882.2:c.41-142_41-139delinsAGTG NP_001073351.1:n.41-142_41-139delinsAGTG
NM_016457.5:c.512-142_512-139delinsAGTG MANE Select NP_057541.2:n.512-142_512-139delinsAGTG