Linked Data
ClinVar Variation Id:
1690729
dbSNP Id:
rs770607110
ExAC:
3:48508200 CCT / C
gnomAD v2:
3-48508200-CCT-C
gnomAD v3:
3-48466801-CCT-C
gnomAD v4:
3-48466801-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48466805_48466806del , CM000665.2:g.48466805_48466806del | GRCh38 |
| NC_000003.11:g.48508204_48508205del , CM000665.1:g.48508204_48508205del | GRCh37 |
| NC_000003.10:g.48483208_48483209del | NCBI36 |
| NG_009820.1:g.5976_5977del | |
| NG_033100.1:g.39058_39059del | |
| NG_041782.1:g.25096_25097del | |
| NG_009820.2:g.5976_5977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320211.10:c.*1251_*1252del (ATRIP) MANE Select | ENSP00000323099.3:n.*1251_*1252del | |
| ENST00000492235.2:c.-268_-267del (TREX1) | ENSP00000494511.1:n.-268_-267del | |
| ENST00000625293.3:c.150_151del (TREX1) MANE Select | ENSP00000486676.2:p.Gln51GlyfsTer? | |
| ENST00000634384.2:c.2745_2746del (ATRIP) | ||
| ENST00000635452.2:c.-268_-267del (TREX1) | ENSP00000492023.2:n.-268_-267del | |
| ENST00000296443.11:c.150_151del | ENSP00000296443.11:p.Gln51GlyfsTer? | |
| ENST00000433541.1:c.-268_-267del (TREX1) | ENSP00000412404.1:n.-268_-267del | |
| ENST00000444177.1:c.120_121del (TREX1) | ENSP00000415972.1:p.Gln41GlyfsTer? | |
| ENST00000456089.1:c.-8-260_-8-259del (TREX1) | ENSP00000411331.1:n.-8-260_-8-259del | |
| ENST00000492235.1:n.68_69del (TREX1) | ||
| ENST00000625293.1:c.315_316del (TREX1) | ENSP00000486676.1:p.Gln106GlyfsTer? | |
| ENST00000629913.1:c.150_151del (TREX1) | ENSP00000486444.1:p.Gln51GlyfsTer? | |
| ENST00000634384.1:c.*2970_*2971del | ENSP00000489041.1:n.*2970_*2971del | |
| ENST00000635452.1:n.1357_1358del | ||
| ENST00000635464.1:c.3103_3104del | ENSP00000489199.1:n.3103_3104del | |
| NM_007248.3:c.120_121del (TREX1) | NP_009179.2:p.Gln41GlyfsTer? | |
| NM_016381.5:c.315_316del (TREX1) | NP_057465.1:p.Gln106GlyfsTer? | |
| NM_033629.4:c.150_151del (TREX1) | NP_338599.1:p.Gln51GlyfsTer? | |
| NM_007248.4:c.120_121del (TREX1) | NP_009179.2:p.Gln41GlyfsTer? | |
| NM_033629.5:c.150_151del (TREX1) | NP_338599.1:p.Gln51GlyfsTer? | |
| NR_153405.1:n.3459_3460del | ||
| NM_033629.6:c.150_151del (TREX1) MANE Select | NP_338599.1:p.Gln51GlyfsTer? | |
| NM_130384.3:c.*1251_*1252del (ATRIP) MANE Select | NP_569055.1:n.*1251_*1252del | |
| NM_001271023.2:c.*1251_*1252del (ATRIP) | NP_001257952.1:n.*1251_*1252del | |
| NM_007248.5:c.120_121del (TREX1) | NP_009179.2:p.Gln41GlyfsTer? | |
| NM_032166.4:c.*1251_*1252del (ATRIP) | NP_115542.2:n.*1251_*1252del | |
| NM_001271022.2:c.*1251_*1252del (ATRIP) | NP_001257951.1:n.*1251_*1252del |