Canonical Allele Identifier: CA16616995
Gene: ADAR HGNC NCBI

Linked Data

ClinVar Variation Id: 420164
ClinVar RCV Id: RCV000483985
dbSNP Id: rs1064794324

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154601150_154601151del , CM000663.2:g.154601150_154601151del GRCh38
NC_000001.10:g.154573626_154573627del , CM000663.1:g.154573626_154573627del GRCh37
NC_000001.9:g.152840250_152840251del NCBI36
NG_011844.1:g.31813_31814del
NG_011844.2:g.35412_35413del

Transcript Alleles

HGVS Amino-acid change
ENST00000649042.2:c.1387_1388del ENSP00000497790.2:n.1387_1388del
ENST00000649724.2:c.1523_1524del ENSP00000497932.2:p.Glu508ValfsTer18
ENST00000680270.2:c.1376_1377del ENSP00000505532.2:p.Glu459ValfsTer18
ENST00000681056.2:c.1145_1146del ENSP00000506234.2:p.Glu382ValfsTer18
ENST00000368471.8:c.608_609del ENSP00000357456.3:p.Glu203ValfsTer18
ENST00000368474.9:c.1493_1494del MANE Select ENSP00000357459.4:p.Glu498ValfsTer18
ENST00000529168.2:c.1493_1494del ENSP00000431794.2:p.Glu498ValfsTer18
ENST00000647682.2:n.1223_1224del
ENST00000648231.2:c.608_609del ENSP00000497555.1:p.Glu203ValfsTer18
ENST00000648311.1:c.608_609del ENSP00000498137.1:p.Glu203ValfsTer18
ENST00000648714.2:c.1493_1494del ENSP00000497434.2:p.Glu498ValfsTer18
ENST00000648871.1:c.608_609del ENSP00000497793.1:p.Glu203ValfsTer18
ENST00000649021.1:n.1529_1530del
ENST00000649022.2:c.608_609del ENSP00000496896.2:p.Glu203ValfsTer18
ENST00000649042.1:c.608_609del ENSP00000497790.1:p.Glu203ValfsTer18
ENST00000649408.2:c.1493_1494del ENSP00000497386.2:p.Glu498ValfsTer18
ENST00000649724.1:c.608_609del ENSP00000497932.1:p.Glu203ValfsTer18
ENST00000649749.1:c.608_609del ENSP00000497210.1:p.Glu203ValfsTer18
ENST00000679375.1:c.608_609del ENSP00000505887.1:p.Glu203ValfsTer18
ENST00000679465.1:n.1691_1692del
ENST00000679805.1:n.1529_1530del
ENST00000679899.1:c.608_609del ENSP00000505996.1:p.Glu203ValfsTer18
ENST00000680270.1:c.608_609del ENSP00000505532.1:p.Glu203ValfsTer18
ENST00000680305.1:c.1493_1494del ENSP00000506312.1:p.Glu498ValfsTer18
ENST00000680472.1:n.1532_1533del
ENST00000681056.1:c.608_609del ENSP00000506234.1:p.Glu203ValfsTer18
ENST00000681235.1:c.*1093_*1094del ENSP00000506606.1:n.*1093_*1094del
ENST00000681683.1:c.608_609del ENSP00000506666.1:p.Glu203ValfsTer18
ENST00000681786.1:n.1691_1692del
ENST00000681901.1:c.*1093_*1094del ENSP00000504883.1:n.*1093_*1094del
ENST00000368471.7:c.608_609del ENSP00000357456.3:p.Glu203ValfsTer18
ENST00000368474.8:c.1493_1494del ENSP00000357459.4:p.Glu498ValfsTer18
ENST00000463920.5:n.1375_1376del
ENST00000529168.1:c.1478_1479del ENSP00000431794.1:p.Glu493ValfsTer18
NM_001025107.2:c.608_609del NP_001020278.1:p.Glu203ValfsTer18
NM_001111.4:c.1493_1494del NP_001102.2:p.Glu498ValfsTer18
NM_001193495.1:c.608_609del NP_001180424.1:p.Glu203ValfsTer18
NM_015840.3:c.1493_1494del NP_056655.2:p.Glu498ValfsTer18
NM_015841.3:c.1493_1494del NP_056656.2:p.Glu498ValfsTer18
XM_006711109.1:c.1523_1524del XP_006711172.1:p.Glu508ValfsTer18
XM_006711111.2:c.608_609del XP_006711174.1:p.Glu203ValfsTer18
XM_006711112.1:c.608_609del XP_006711175.1:p.Glu203ValfsTer18
XM_006711113.1:c.608_609del XP_006711176.1:p.Glu203ValfsTer18
XM_011509060.1:c.1622_1623del XP_011507362.1:p.Glu541ValfsTer18
XM_011509061.1:c.1622_1623del XP_011507363.1:p.Glu541ValfsTer18
XM_011509062.1:c.1511_1512del XP_011507364.1:p.Glu504ValfsTer18
NM_001025107.3:c.608_609del NP_001020278.1:p.Glu203ValfsTer18
NM_001111.5:c.1493_1494del MANE Select NP_001102.3:p.Glu498ValfsTer18
NM_001193495.2:c.608_609del NP_001180424.1:p.Glu203ValfsTer18
NM_001365045.1:c.1520_1521del NP_001351974.1:p.Glu507ValfsTer18
NM_001365046.1:c.608_609del NP_001351975.1:p.Glu203ValfsTer18
NM_001365047.1:c.608_609del NP_001351976.1:p.Glu203ValfsTer18
NM_001365048.1:c.608_609del NP_001351977.1:p.Glu203ValfsTer18
NM_001365049.1:c.608_609del NP_001351978.1:p.Glu203ValfsTer18
NM_015840.4:c.1493_1494del NP_056655.3:p.Glu498ValfsTer18
NM_015841.4:c.1493_1494del NP_056656.3:p.Glu498ValfsTer18
XM_006711113.2:c.608_609del XP_006711176.1:p.Glu203ValfsTer18
XM_011509061.2:c.608_609del XP_011507363.2:p.Glu203ValfsTer18
XM_024449674.1:c.1622_1623del XP_024305442.1:p.Glu541ValfsTer18