Linked Data
dbSNP Id:
rs1424256410
gnomAD v2:
11-108199730-GGTTGT-G
gnomAD v4:
11-108329003-GGTTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329007_108329011del , CM000673.2:g.108329007_108329011del | GRCh38 |
| NC_000011.9:g.108199734_108199738del , CM000673.1:g.108199734_108199738del | GRCh37 |
| NC_000011.8:g.107704944_107704948del | NCBI36 |
| NG_009830.1:g.111176_111180del , LRG_135:g.111176_111180del | |
| NG_054724.1:g.145825_145829del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7090-14_7090-10del (ATM) | ENSP00000388058.2:n.7090-14_7090-10del | |
| ENST00000713593.1:c.*6561-14_*6561-10del (ATM) | ENSP00000518889.1:n.*6561-14_*6561-10del | |
| ENST00000278616.9:c.7090-14_7090-10del (ATM) | ENSP00000278616.4:n.7090-14_7090-10del | |
| ENST00000525056.2:n.1509-14_1509-10del (ATM) | ||
| ENST00000525537.3:n.47-14_47-10del (ATM) | ||
| ENST00000682286.1:n.1847-14_1847-10del (ATM) | ||
| ENST00000682302.1:n.1508-14_1508-10del (ATM) | ||
| ENST00000683174.1:n.8574-14_8574-10del (ATM) | ||
| ENST00000683524.1:n.2314-14_2314-10del (ATM) | ||
| ENST00000684152.1:n.2804-14_2804-10del (ATM) | ||
| ENST00000684447.1:n.1553-14_1553-10del (ATM) | ||
| ENST00000527805.6:c.*2154-14_*2154-10del (ATM) | ENSP00000435747.2:n.*2154-14_*2154-10del | |
| ENST00000675595.1:c.*2225-14_*2225-10del (ATM) | ENSP00000502563.1:n.*2225-14_*2225-10del | |
| ENST00000675843.1:c.7090-14_7090-10del (ATM) MANE Select | ENSP00000501606.1:n.7090-14_7090-10del | |
| ENST00000278616.8:c.7090-14_7090-10del (ATM) | ENSP00000278616.4:n.7090-14_7090-10del | |
| ENST00000452508.6:c.7090-14_7090-10del (ATM) | ENSP00000388058.2:n.7090-14_7090-10del | |
| ENST00000524792.5:n.3305-14_3305-10del (ATM) | ||
| ENST00000525537.2:n.366-14_366-10del (ATM) | ||
| ENST00000525729.5:c.641-19937_641-19933del (C11orf65) | ENSP00000433395.1:n.641-19937_641-19933de... | |
| ENST00000527389.2:n.115-14_115-10del (ATM) | ||
| ENST00000533690.5:n.2494-14_2494-10del (ATM) | ||
| NM_000051.3:c.7090-14_7090-10del , LRG_135t1:c.7090-14_7090-10del (ATM) | NP_000042.3:n.7090-14_7090-10del | |
| XM_005271561.3:c.7090-14_7090-10del (ATM) | XP_005271618.2:n.7090-14_7090-10del | |
| XM_005271562.3:c.7090-14_7090-10del (ATM) | XP_005271619.2:n.7090-14_7090-10del | |
| XM_006718843.2:c.7090-14_7090-10del (ATM) | XP_006718906.1:n.7090-14_7090-10del | |
| XM_006718845.1:c.3046-14_3046-10del (ATM) | XP_006718908.1:n.3046-14_3046-10del | |
| XM_011542840.1:c.7090-14_7090-10del (ATM) | XP_011541142.1:n.7090-14_7090-10del | |
| XM_011542841.1:c.7090-14_7090-10del (ATM) | XP_011541143.1:n.7090-14_7090-10del | |
| XM_011542842.1:c.6925-14_6925-10del (ATM) | XP_011541144.1:n.6925-14_6925-10del | |
| XM_011542843.1:c.7090-14_7090-10del (ATM) | XP_011541145.1:n.7090-14_7090-10del | |
| XM_011542844.1:c.6046-14_6046-10del (ATM) | XP_011541146.1:n.6046-14_6046-10del | |
| XM_011542845.1:c.5782-14_5782-10del (ATM) | XP_011541147.1:n.5782-14_5782-10del | |
| XM_011542847.1:c.2161-14_2161-10del (ATM) | XP_011541149.1:n.2161-14_2161-10del | |
| NM_001330368.1:c.641-19937_641-19933del (C11orf65) | NP_001317297.1:n.641-19937_641-19933del | |
| NM_001351110.1:c.*38+6212_*38+6216del (C11orf65) | NP_001338039.1:n.*38+6212_*38+6216del | |
| NM_001351834.1:c.7090-14_7090-10del (ATM) | NP_001338763.1:n.7090-14_7090-10del | |
| XM_005271562.5:c.7090-14_7090-10del (ATM) | XP_005271619.2:n.7090-14_7090-10del | |
| XM_006718843.4:c.7090-14_7090-10del (ATM) | XP_006718906.1:n.7090-14_7090-10del | |
| XM_006718845.2:c.3046-14_3046-10del (ATM) | XP_006718908.1:n.3046-14_3046-10del | |
| XM_011542840.3:c.7090-14_7090-10del (ATM) | XP_011541142.1:n.7090-14_7090-10del | |
| XM_011542842.3:c.6925-14_6925-10del (ATM) | XP_011541144.1:n.6925-14_6925-10del | |
| XM_011542843.2:c.7090-14_7090-10del (ATM) | XP_011541145.1:n.7090-14_7090-10del | |
| XM_011542844.3:c.6046-14_6046-10del (ATM) | XP_011541146.1:n.6046-14_6046-10del | |
| XM_011542845.2:c.5782-14_5782-10del (ATM) | XP_011541147.1:n.5782-14_5782-10del | |
| XM_017017789.2:c.7090-14_7090-10del (ATM) | XP_016873278.1:n.7090-14_7090-10del | |
| XM_017017790.2:c.7090-14_7090-10del (ATM) | XP_016873279.1:n.7090-14_7090-10del | |
| NM_001330368.2:c.641-19937_641-19933del (C11orf65) | NP_001317297.1:n.641-19937_641-19933del | |
| NM_001351110.2:c.*38+6212_*38+6216del (C11orf65) | NP_001338039.1:n.*38+6212_*38+6216del | |
| NM_001351834.2:c.7090-14_7090-10del (ATM) | NP_001338763.1:n.7090-14_7090-10del | |
| NM_000051.4:c.7090-14_7090-10del (ATM) MANE Select | NP_000042.3:n.7090-14_7090-10del |