Linked Data
dbSNP Id:
rs753347378
ExAC:
11:108199718 ATAATT / A
gnomAD v2:
11-108199718-ATAATT-A
gnomAD v3:
11-108328991-ATAATT-A
gnomAD v4:
11-108328991-ATAATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108328995_108328999del , CM000673.2:g.108328995_108328999del | GRCh38 |
| NC_000011.9:g.108199722_108199726del , CM000673.1:g.108199722_108199726del | GRCh37 |
| NC_000011.8:g.107704932_107704936del | NCBI36 |
| NG_009830.1:g.111164_111168del , LRG_135:g.111164_111168del | |
| NG_054724.1:g.145837_145841del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7090-26_7090-22del (ATM) | ENSP00000388058.2:n.7090-26_7090-22del | |
| ENST00000713593.1:c.*6561-26_*6561-22del (ATM) | ENSP00000518889.1:n.*6561-26_*6561-22del | |
| ENST00000278616.9:c.7090-26_7090-22del (ATM) | ENSP00000278616.4:n.7090-26_7090-22del | |
| ENST00000525056.2:n.1509-26_1509-22del (ATM) | ||
| ENST00000525537.3:n.47-26_47-22del (ATM) | ||
| ENST00000682286.1:n.1847-26_1847-22del (ATM) | ||
| ENST00000682302.1:n.1508-26_1508-22del (ATM) | ||
| ENST00000683174.1:n.8574-26_8574-22del (ATM) | ||
| ENST00000683524.1:n.2314-26_2314-22del (ATM) | ||
| ENST00000684152.1:n.2804-26_2804-22del (ATM) | ||
| ENST00000684447.1:n.1553-26_1553-22del (ATM) | ||
| ENST00000527805.6:c.*2154-26_*2154-22del (ATM) | ENSP00000435747.2:n.*2154-26_*2154-22del | |
| ENST00000675595.1:c.*2225-26_*2225-22del (ATM) | ENSP00000502563.1:n.*2225-26_*2225-22del | |
| ENST00000675843.1:c.7090-26_7090-22del (ATM) MANE Select | ENSP00000501606.1:n.7090-26_7090-22del | |
| ENST00000278616.8:c.7090-26_7090-22del (ATM) | ENSP00000278616.4:n.7090-26_7090-22del | |
| ENST00000452508.6:c.7090-26_7090-22del (ATM) | ENSP00000388058.2:n.7090-26_7090-22del | |
| ENST00000524792.5:n.3305-26_3305-22del (ATM) | ||
| ENST00000525537.2:n.366-26_366-22del (ATM) | ||
| ENST00000525729.5:c.641-19925_641-19921del (C11orf65) | ENSP00000433395.1:n.641-19925_641-19921de... | |
| ENST00000527389.2:n.115-26_115-22del (ATM) | ||
| ENST00000533690.5:n.2494-26_2494-22del (ATM) | ||
| NM_000051.3:c.7090-26_7090-22del , LRG_135t1:c.7090-26_7090-22del (ATM) | NP_000042.3:n.7090-26_7090-22del | |
| XM_005271561.3:c.7090-26_7090-22del (ATM) | XP_005271618.2:n.7090-26_7090-22del | |
| XM_005271562.3:c.7090-26_7090-22del (ATM) | XP_005271619.2:n.7090-26_7090-22del | |
| XM_006718843.2:c.7090-26_7090-22del (ATM) | XP_006718906.1:n.7090-26_7090-22del | |
| XM_006718845.1:c.3046-26_3046-22del (ATM) | XP_006718908.1:n.3046-26_3046-22del | |
| XM_011542840.1:c.7090-26_7090-22del (ATM) | XP_011541142.1:n.7090-26_7090-22del | |
| XM_011542841.1:c.7090-26_7090-22del (ATM) | XP_011541143.1:n.7090-26_7090-22del | |
| XM_011542842.1:c.6925-26_6925-22del (ATM) | XP_011541144.1:n.6925-26_6925-22del | |
| XM_011542843.1:c.7090-26_7090-22del (ATM) | XP_011541145.1:n.7090-26_7090-22del | |
| XM_011542844.1:c.6046-26_6046-22del (ATM) | XP_011541146.1:n.6046-26_6046-22del | |
| XM_011542845.1:c.5782-26_5782-22del (ATM) | XP_011541147.1:n.5782-26_5782-22del | |
| XM_011542847.1:c.2161-26_2161-22del (ATM) | XP_011541149.1:n.2161-26_2161-22del | |
| NM_001330368.1:c.641-19925_641-19921del (C11orf65) | NP_001317297.1:n.641-19925_641-19921del | |
| NM_001351110.1:c.*38+6224_*38+6228del (C11orf65) | NP_001338039.1:n.*38+6224_*38+6228del | |
| NM_001351834.1:c.7090-26_7090-22del (ATM) | NP_001338763.1:n.7090-26_7090-22del | |
| XM_005271562.5:c.7090-26_7090-22del (ATM) | XP_005271619.2:n.7090-26_7090-22del | |
| XM_006718843.4:c.7090-26_7090-22del (ATM) | XP_006718906.1:n.7090-26_7090-22del | |
| XM_006718845.2:c.3046-26_3046-22del (ATM) | XP_006718908.1:n.3046-26_3046-22del | |
| XM_011542840.3:c.7090-26_7090-22del (ATM) | XP_011541142.1:n.7090-26_7090-22del | |
| XM_011542842.3:c.6925-26_6925-22del (ATM) | XP_011541144.1:n.6925-26_6925-22del | |
| XM_011542843.2:c.7090-26_7090-22del (ATM) | XP_011541145.1:n.7090-26_7090-22del | |
| XM_011542844.3:c.6046-26_6046-22del (ATM) | XP_011541146.1:n.6046-26_6046-22del | |
| XM_011542845.2:c.5782-26_5782-22del (ATM) | XP_011541147.1:n.5782-26_5782-22del | |
| XM_017017789.2:c.7090-26_7090-22del (ATM) | XP_016873278.1:n.7090-26_7090-22del | |
| XM_017017790.2:c.7090-26_7090-22del (ATM) | XP_016873279.1:n.7090-26_7090-22del | |
| NM_001330368.2:c.641-19925_641-19921del (C11orf65) | NP_001317297.1:n.641-19925_641-19921del | |
| NM_001351110.2:c.*38+6224_*38+6228del (C11orf65) | NP_001338039.1:n.*38+6224_*38+6228del | |
| NM_001351834.2:c.7090-26_7090-22del (ATM) | NP_001338763.1:n.7090-26_7090-22del | |
| NM_000051.4:c.7090-26_7090-22del (ATM) MANE Select | NP_000042.3:n.7090-26_7090-22del |