Linked Data
dbSNP Id:
rs1438317371
gnomAD v2:
11-61723166-TCGCCCCC-T
gnomAD v3:
11-61955694-TCGCCCCC-T
gnomAD v4:
11-61955694-TCGCCCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955701_61955707del , CM000673.2:g.61955701_61955707del | GRCh38 |
| NC_000011.9:g.61723173_61723179del , CM000673.1:g.61723173_61723179del | GRCh37 |
| NC_000011.8:g.61479749_61479755del | NCBI36 |
| NG_009033.1:g.10818_10824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.248-17_248-11del MANE Select | ENSP00000367282.4:n.248-17_248-11del | |
| ENST00000378043.8:c.248-17_248-11del | ENSP00000367282.4:n.248-17_248-11del | |
| ENST00000449131.6:c.68-17_68-11del | ENSP00000399709.2:n.68-17_68-11del | |
| ENST00000524877.5:n.663_669del | ||
| ENST00000524926.5:c.248-17_248-11del | ENSP00000432681.1:n.248-17_248-11del | |
| ENST00000526988.1:c.-71-17_-71-11del | ENSP00000433195.1:n.-71-17_-71-11del | |
| ENST00000529265.5:n.171-17_171-11del | ||
| ENST00000533521.5:n.855_861del | ||
| ENST00000534553.5:c.-71-17_-71-11del | ENSP00000431189.1:n.-71-17_-71-11del | |
| NM_001139443.1:c.68-17_68-11del | NP_001132915.1:n.68-17_68-11del | |
| NM_001300786.1:c.68-17_68-11del | NP_001287715.1:n.68-17_68-11del | |
| NM_001300787.1:c.68-17_68-11del | NP_001287716.1:n.68-17_68-11del | |
| NM_004183.3:c.248-17_248-11del | NP_004174.1:n.248-17_248-11del | |
| XM_005274210.2:c.248-17_248-11del | XP_005274267.1:n.248-17_248-11del | |
| XM_005274215.2:c.-71-17_-71-11del | XP_005274272.1:n.-71-17_-71-11del | |
| XM_005274216.2:c.68-17_68-11del | XP_005274273.1:n.68-17_68-11del | |
| XM_005274218.3:c.-71-17_-71-11del | XP_005274275.1:n.-71-17_-71-11del | |
| XM_005274219.2:c.248-17_248-11del | XP_005274276.1:n.248-17_248-11del | |
| XM_005274221.2:c.248-17_248-11del | XP_005274278.1:n.248-17_248-11del | |
| XM_011545229.1:c.248-17_248-11del | XP_011543531.1:n.248-17_248-11del | |
| XM_011545230.1:c.155-17_155-11del | XP_011543532.1:n.155-17_155-11del | |
| XM_011545231.1:c.-71-17_-71-11del | XP_011543533.1:n.-71-17_-71-11del | |
| XM_011545232.1:c.248-17_248-11del | XP_011543534.1:n.248-17_248-11del | |
| NM_001363591.1:c.-71-17_-71-11del | NP_001350520.1:n.-71-17_-71-11del | |
| NM_001363592.1:c.248-17_248-11del | NP_001350521.1:n.248-17_248-11del | |
| NM_001363593.1:c.-928-17_-928-11del | NP_001350522.1:n.-928-17_-928-11del | |
| NR_134580.1:n.828-17_828-11del | ||
| XM_005274210.4:c.248-17_248-11del | XP_005274267.1:n.248-17_248-11del | |
| XM_005274215.4:c.-71-17_-71-11del | XP_005274272.1:n.-71-17_-71-11del | |
| XM_005274216.4:c.68-17_68-11del | XP_005274273.1:n.68-17_68-11del | |
| XM_005274219.4:c.248-17_248-11del | XP_005274276.1:n.248-17_248-11del | |
| XM_005274221.4:c.248-17_248-11del | XP_005274278.1:n.248-17_248-11del | |
| XM_011545229.3:c.248-17_248-11del | XP_011543531.1:n.248-17_248-11del | |
| XM_011545230.3:c.155-17_155-11del | XP_011543532.1:n.155-17_155-11del | |
| XM_017018230.2:c.-71-17_-71-11del | XP_016873719.1:n.-71-17_-71-11del | |
| XR_001747952.2:n.746-17_746-11del | ||
| XR_001747953.2:n.938-17_938-11del | ||
| XR_001747954.2:n.938-17_938-11del | ||
| XR_002957249.1:n.2037_2043del | ||
| NM_004183.4:c.248-17_248-11del MANE Select | NP_004174.1:n.248-17_248-11del | |
| NM_001139443.2:c.68-17_68-11del | NP_001132915.1:n.68-17_68-11del | |
| NM_001300786.2:c.68-17_68-11del | NP_001287715.1:n.68-17_68-11del | |
| NM_001300787.2:c.68-17_68-11del | NP_001287716.1:n.68-17_68-11del | |
| NM_001363591.2:c.-71-17_-71-11del | NP_001350520.1:n.-71-17_-71-11del | |
| NM_001363593.2:c.-928-17_-928-11del | NP_001350522.1:n.-928-17_-928-11del | |
| NR_134580.2:n.361-17_361-11del |