Canonical Allele Identifier: CA16616993
Gene: ADAR HGNC NCBI

Linked Data

ClinVar Variation Id: 422292
ClinVar RCV Id: RCV000480726
dbSNP Id: rs1064795689

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154588141_154588142delinsAA , CM000663.2:g.154588141_154588142delinsAA GRCh38
NC_000001.10:g.154560617_154560618delinsAA , CM000663.1:g.154560617_154560618delinsAA GRCh37
NC_000001.9:g.152827241_152827242delinsAA NCBI36
NG_011844.1:g.44820_44821delinsTT
NG_011844.2:g.48419_48420delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000649042.2:c.2896_2897delinsTT ENSP00000497790.2:n.2896_2897delinsTT
ENST00000649724.2:c.3032_3033delinsTT ENSP00000497932.2:p.Arg1011Leu
ENST00000680270.2:c.2885_2886delinsTT ENSP00000505532.2:p.Arg962Leu
ENST00000681056.2:c.2654_2655delinsTT ENSP00000506234.2:p.Arg885Leu
ENST00000368471.8:c.2117_2118delinsTT ENSP00000357456.3:p.Arg706Leu
ENST00000368474.9:c.3002_3003delinsTT MANE Select ENSP00000357459.4:p.Arg1001Leu
ENST00000529168.2:c.2924_2925delinsTT ENSP00000431794.2:p.Arg975Leu
ENST00000647682.2:n.2987_2988delinsTT
ENST00000648231.2:c.2117_2118delinsTT ENSP00000497555.1:p.Arg706Leu
ENST00000648311.1:c.2117_2118delinsTT ENSP00000498137.1:p.Arg706Leu
ENST00000648714.2:c.*477_*478delinsTT ENSP00000497434.2:n.*477_*478delinsTT
ENST00000649021.1:n.3330_3331delinsTT
ENST00000649022.2:c.2117_2118delinsTT ENSP00000496896.2:p.Arg706Leu
ENST00000649042.1:c.2117_2118delinsTT ENSP00000497790.1:p.Arg706Leu
ENST00000649408.2:c.3002_3003delinsTT ENSP00000497386.2:p.Arg1001Leu
ENST00000649724.1:c.2117_2118delinsTT ENSP00000497932.1:p.Arg706Leu
ENST00000649749.1:c.2117_2118delinsTT ENSP00000497210.1:p.Arg706Leu
ENST00000679375.1:c.*1234_*1235delinsTT ENSP00000505887.1:n.*1234_*1235delinsTT
ENST00000679465.1:n.3455_3456delinsTT
ENST00000679805.1:n.3330_3331delinsTT
ENST00000679899.1:c.2060_2061delinsTT ENSP00000505996.1:p.Arg687Leu
ENST00000680270.1:c.2117_2118delinsTT ENSP00000505532.1:p.Arg706Leu
ENST00000680305.1:c.3002_3003delinsTT ENSP00000506312.1:p.Arg1001Leu
ENST00000681056.1:c.2117_2118delinsTT ENSP00000506234.1:p.Arg706Leu
ENST00000681235.1:c.*2524_*2525delinsTT ENSP00000506606.1:n.*2524_*2525delinsTT
ENST00000681429.1:n.2262_2263delinsTT
ENST00000681683.1:c.2117_2118delinsTT ENSP00000506666.1:p.Arg706Leu
ENST00000681786.1:n.3455_3456delinsTT
ENST00000681901.1:c.*2602_*2603delinsTT ENSP00000504883.1:n.*2602_*2603delinsTT
ENST00000368471.7:c.2117_2118delinsTT ENSP00000357456.3:p.Arg706Leu
ENST00000368474.8:c.3002_3003delinsTT ENSP00000357459.4:p.Arg1001Leu
ENST00000529168.1:c.2909_2910delinsTT ENSP00000431794.1:p.Arg970Leu
ENST00000530954.1:n.139_140delinsTT
ENST00000534279.1:n.461_462delinsTT
NM_001025107.2:c.2117_2118delinsTT NP_001020278.1:p.Arg706Leu
NM_001111.4:c.3002_3003delinsTT NP_001102.2:p.Arg1001Leu
NM_001193495.1:c.2117_2118delinsTT NP_001180424.1:p.Arg706Leu
NM_015840.3:c.2924_2925delinsTT NP_056655.2:p.Arg975Leu
NM_015841.3:c.2867_2868delinsTT NP_056656.2:p.Arg956Leu
XM_006711109.1:c.3032_3033delinsTT XP_006711172.1:p.Arg1011Leu
XM_006711111.2:c.2117_2118delinsTT XP_006711174.1:p.Arg706Leu
XM_006711112.1:c.2117_2118delinsTT XP_006711175.1:p.Arg706Leu
XM_006711113.1:c.2117_2118delinsTT XP_006711176.1:p.Arg706Leu
XM_011509060.1:c.3131_3132delinsTT XP_011507362.1:p.Arg1044Leu
XM_011509061.1:c.3053_3054delinsTT XP_011507363.1:p.Arg1018Leu
XM_011509062.1:c.3020_3021delinsTT XP_011507364.1:p.Arg1007Leu
NM_001025107.3:c.2117_2118delinsTT NP_001020278.1:p.Arg706Leu
NM_001111.5:c.3002_3003delinsTT MANE Select NP_001102.3:p.Arg1001Leu
NM_001193495.2:c.2117_2118delinsTT NP_001180424.1:p.Arg706Leu
NM_001365045.1:c.3029_3030delinsTT NP_001351974.1:p.Arg1010Leu
NM_001365046.1:c.2117_2118delinsTT NP_001351975.1:p.Arg706Leu
NM_001365047.1:c.2117_2118delinsTT NP_001351976.1:p.Arg706Leu
NM_001365048.1:c.2117_2118delinsTT NP_001351977.1:p.Arg706Leu
NM_001365049.1:c.2039_2040delinsTT NP_001351978.1:p.Arg680Leu
NM_015840.4:c.2924_2925delinsTT NP_056655.3:p.Arg975Leu
NM_015841.4:c.2867_2868delinsTT NP_056656.3:p.Arg956Leu
XM_006711113.2:c.2117_2118delinsTT XP_006711176.1:p.Arg706Leu
XM_011509061.2:c.2039_2040delinsTT XP_011507363.2:p.Arg680Leu
XM_024449674.1:c.3131_3132delinsTT XP_024305442.1:p.Arg1044Leu