Linked Data
dbSNP Id:
rs1179851188
gnomAD v2:
2-48032633-C-CATTA
gnomAD v3:
2-47805494-C-CATTA
gnomAD v4:
2-47805494-C-CATTA
MyVariant Identifiers:
chr2:g.48032633_48032634insATTA (hg19)
chr2:g.47805494_47805495insATTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805494_47805495insATTA , CM000664.2:g.47805494_47805495insATTA | GRCh38 |
| NC_000002.11:g.48032633_48032634insATTA , CM000664.1:g.48032633_48032634insATTA | GRCh37 |
| NC_000002.10:g.47886137_47886138insATTA | NCBI36 |
| NG_007111.1:g.27348_27349insATTA , LRG_219:g.27348_27349insATTA | |
| NG_008397.1:g.105181_105182insTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3260-124_3260-123insATTA (MSH6) | ENSP00000406248.2:n.3260-124_3260-123insATTA | |
| ENST00000420813.6:c.3260-124_3260-123insATTA (MSH6) | ENSP00000390382.2:n.3260-124_3260-123insATTA | |
| ENST00000455383.6:c.3260-124_3260-123insATTA (MSH6) | ENSP00000397484.2:n.3260-124_3260-123insATTA | |
| ENST00000700004.2:c.3173-124_3173-123insATTA (MSH6) | ENSP00000514752.2:n.3173-124_3173-123insATTA | |
| ENST00000699999.1:n.4107_4108insATTA (MSH6) | ||
| ENST00000700000.1:c.1991-124_1991-123insATTA (MSH6) | ENSP00000514749.1:n.1991-124_1991-123insATTA | |
| ENST00000700002.1:c.3563-124_3563-123insATTA (MSH6) | ENSP00000514750.1:n.3563-124_3563-123insATTA | |
| ENST00000700003.1:c.1012-124_1012-123insATTA (MSH6) | ENSP00000514751.1:n.1012-124_1012-123insATTA | |
| ENST00000700004.1:c.2330-124_2330-123insATTA (MSH6) | ENSP00000514752.1:n.2330-124_2330-123insATTA | |
| ENST00000700005.1:n.2408-124_2408-123insATTA (MSH6) | ||
| ENST00000700006.1:n.4095_4096insATTA (MSH6) | ||
| ENST00000700007.1:n.2028_2029insATTA (MSH6) | ||
| ENST00000700008.1:n.1602_1603insATTA (MSH6) | ||
| ENST00000700009.1:n.1601_1602insATTA (MSH6) | ||
| ENST00000700010.1:n.966-124_966-123insATTA (MSH6) | ||
| ENST00000700011.1:n.2727_2728insATTA (MSH6) | ||
| ENST00000234420.11:c.3557-124_3557-123insATTA (MSH6) MANE Select | ENSP00000234420.5:n.3557-124_3557-123insATTA | |
| ENST00000540021.6:c.3167-124_3167-123insATTA (MSH6) | ENSP00000446475.1:n.3167-124_3167-123insATTA | |
| ENST00000652107.1:c.3260-124_3260-123insATTA (MSH6) | ENSP00000498629.1:n.3260-124_3260-123insATTA | |
| ENST00000673637.1:c.3260-124_3260-123insATTA (MSH6) | ENSP00000501310.1:n.3260-124_3260-123insATTA | |
| ENST00000234420.9:c.3557-124_3557-123insATTA (MSH6) | ENSP00000234420.4:n.3557-124_3557-123insATTA | |
| ENST00000405808.5:c.169+2700_169+2701insTAAT (FBXO11) | ENSP00000385127.1:n.169+2700_169+2701insTAAT | |
| ENST00000434234.5:c.*124+2499_*124+2500insTAAT (FBXO11) | ENSP00000402692.1:n.*124+2499_*124+2500insTAAT | |
| ENST00000445503.5:c.*2904-124_*2904-123insATTA (MSH6) | ENSP00000405294.1:n.*2904-124_*2904-123insATTA | |
| ENST00000538136.1:c.2651-124_2651-123insATTA (MSH6) | ENSP00000438580.1:n.2651-124_2651-123insATTA | |
| ENST00000540021.5:c.3167-124_3167-123insATTA (MSH6) | ENSP00000446475.1:n.3167-124_3167-123insATTA | |
| ENST00000614496.4:c.2651-124_2651-123insATTA (MSH6) | ENSP00000477844.1:n.2651-124_2651-123insATTA | |
| ENST00000622629.4:c.461-124_461-123insATTA (MSH6) | ENSP00000482078.1:n.461-124_461-123insATTA | |
| NM_000179.2:c.3557-124_3557-123insATTA , LRG_219t1:c.3557-124_3557-123insATTA (MSH6) | NP_000170.1:n.3557-124_3557-123insATTA | |
| NM_001281492.1:c.3167-124_3167-123insATTA (MSH6) | NP_001268421.1:n.3167-124_3167-123insATTA | |
| NM_001281493.1:c.2651-124_2651-123insATTA (MSH6) | NP_001268422.1:n.2651-124_2651-123insATTA | |
| NM_001281494.1:c.2651-124_2651-123insATTA (MSH6) | NP_001268423.1:n.2651-124_2651-123insATTA | |
| XM_005264271.1:c.3260-124_3260-123insATTA (MSH6) | XP_005264328.1:n.3260-124_3260-123insATTA | |
| XM_011532798.1:c.3374-124_3374-123insATTA (MSH6) | XP_011531100.1:n.3374-124_3374-123insATTA | |
| XM_011532799.1:c.3260-124_3260-123insATTA (MSH6) | XP_011531101.1:n.3260-124_3260-123insATTA | |
| XM_011532800.1:c.3260-124_3260-123insATTA (MSH6) | XP_011531102.1:n.3260-124_3260-123insATTA | |
| XM_024452819.1:c.3557-124_3557-123insATTA (MSH6) | XP_024308587.1:n.3557-124_3557-123insATTA | |
| XM_024452820.1:c.3374-124_3374-123insATTA (MSH6) | XP_024308588.1:n.3374-124_3374-123insATTA | |
| XM_024452821.1:c.3260-124_3260-123insATTA (MSH6) | XP_024308589.1:n.3260-124_3260-123insATTA | |
| XM_024452822.1:c.2651-124_2651-123insATTA (MSH6) | XP_024308590.1:n.2651-124_2651-123insATTA | |
| NM_000179.3:c.3557-124_3557-123insATTA (MSH6) MANE Select | NP_000170.1:n.3557-124_3557-123insATTA | |
| NM_001281492.2:c.3167-124_3167-123insATTA (MSH6) | NP_001268421.1:n.3167-124_3167-123insATTA | |
| NM_001281493.2:c.2651-124_2651-123insATTA (MSH6) | NP_001268422.1:n.2651-124_2651-123insATTA | |
| NM_001281494.2:c.2651-124_2651-123insATTA (MSH6) | NP_001268423.1:n.2651-124_2651-123insATTA |