Linked Data
dbSNP Id:
rs267608073
ExAC:
2:48028158 AAAG / A
gnomAD v2:
2-48028158-AAAG-A
gnomAD v3:
2-47801019-AAAG-A
gnomAD v4:
2-47801019-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47801023_47801025del , CM000664.2:g.47801023_47801025del | GRCh38 |
| NC_000002.11:g.48028162_48028164del , CM000664.1:g.48028162_48028164del | GRCh37 |
| NC_000002.10:g.47881666_47881668del | NCBI36 |
| NG_007111.1:g.22877_22879del , LRG_219:g.22877_22879del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.2743_2745del (MSH6) | ENSP00000406248.2:p.Lys915del | |
| ENST00000420813.6:c.2743_2745del (MSH6) | ENSP00000390382.2:p.Lys915del | |
| ENST00000455383.6:c.2743_2745del (MSH6) | ENSP00000397484.2:p.Lys915del | |
| ENST00000700004.2:c.3040_3042del (MSH6) | ENSP00000514752.2:p.Lys1014del | |
| ENST00000699999.1:n.3124_3126del (MSH6) | ||
| ENST00000700000.1:c.1606+1434_1606+1436del (MSH6) | ENSP00000514749.1:n.1606+1434_1606+1436de... | |
| ENST00000700002.1:c.3046_3048del (MSH6) | ENSP00000514750.1:p.Lys1016del | |
| ENST00000700003.1:c.628-2397_628-2395del (MSH6) | ENSP00000514751.1:n.628-2397_628-2395del | |
| ENST00000700004.1:c.2197_2199del (MSH6) | ENSP00000514752.1:p.Lys733del | |
| ENST00000234420.11:c.3040_3042del (MSH6) MANE Select | ENSP00000234420.5:p.Lys1014del | |
| ENST00000540021.6:c.2650_2652del (MSH6) | ENSP00000446475.1:p.Lys884del | |
| ENST00000652107.1:c.2743_2745del (MSH6) | ENSP00000498629.1:p.Lys915del | |
| ENST00000673637.1:c.2743_2745del (MSH6) | ENSP00000501310.1:p.Lys915del | |
| ENST00000234420.9:c.3040_3042del (MSH6) | ENSP00000234420.4:p.Lys1014del | |
| ENST00000405808.5:c.169+7173_169+7175del (FBXO11) | ENSP00000385127.1:n.169+7173_169+7175del | |
| ENST00000434234.5:c.*124+6972_*124+6974del (FBXO11) | ENSP00000402692.1:n.*124+6972_*124+6974de... | |
| ENST00000445503.5:c.*2387_*2389del (MSH6) | ENSP00000405294.1:n.*2387_*2389del | |
| ENST00000538136.1:c.2134_2136del (MSH6) | ENSP00000438580.1:p.Lys712del | |
| ENST00000540021.5:c.2650_2652del (MSH6) | ENSP00000446475.1:p.Lys884del | |
| ENST00000614496.4:c.2134_2136del (MSH6) | ENSP00000477844.1:p.Lys712del | |
| ENST00000616033.4:c.3037_3039del (MSH6) | ENSP00000480261.1:p.Lys1013del | |
| ENST00000622629.4:c.-57_-55del (MSH6) | ENSP00000482078.1:n.-57_-55del | |
| NM_000179.2:c.3040_3042del , LRG_219t1:c.3040_3042del (MSH6) | NP_000170.1:p.Lys1014del | |
| NM_001281492.1:c.2650_2652del (MSH6) | NP_001268421.1:p.Lys884del | |
| NM_001281493.1:c.2134_2136del (MSH6) | NP_001268422.1:p.Lys712del | |
| NM_001281494.1:c.2134_2136del (MSH6) | NP_001268423.1:p.Lys712del | |
| XM_005264271.1:c.2743_2745del (MSH6) | XP_005264328.1:p.Lys915del | |
| XM_011532798.1:c.2857_2859del (MSH6) | XP_011531100.1:p.Lys953del | |
| XM_011532799.1:c.2743_2745del (MSH6) | XP_011531101.1:p.Lys915del | |
| XM_011532800.1:c.2743_2745del (MSH6) | XP_011531102.1:p.Lys915del | |
| XM_024452819.1:c.3040_3042del (MSH6) | XP_024308587.1:p.Lys1014del | |
| XM_024452820.1:c.2857_2859del (MSH6) | XP_024308588.1:p.Lys953del | |
| XM_024452821.1:c.2743_2745del (MSH6) | XP_024308589.1:p.Lys915del | |
| XM_024452822.1:c.2134_2136del (MSH6) | XP_024308590.1:p.Lys712del | |
| NM_000179.3:c.3040_3042del (MSH6) MANE Select | NP_000170.1:p.Lys1014del | |
| NM_001281492.2:c.2650_2652del (MSH6) | NP_001268421.1:p.Lys884del | |
| NM_001281493.2:c.2134_2136del (MSH6) | NP_001268422.1:p.Lys712del | |
| NM_001281494.2:c.2134_2136del (MSH6) | NP_001268423.1:p.Lys712del |