Linked Data
ClinVar Variation Id:
2733
dbSNP Id:
rs121918283
gnomAD v3:
11-61959510-CTCA-C
gnomAD v4:
11-61959510-CTCA-C
MyVariant Identifiers:
chr11:g.61726986_61726988del (hg19)
chr11:g.61726983_61726985del (hg19)
chr11:g.61959514_61959516del (hg38)
chr11:g.61959511_61959513del (hg38)
PubMed:
PMID:9700209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959514_61959516del , CM000673.2:g.61959514_61959516del | GRCh38 |
| NC_000011.9:g.61726986_61726988del , CM000673.1:g.61726986_61726988del | GRCh37 |
| NC_000011.8:g.61483562_61483564del | NCBI36 |
| NG_009033.1:g.14631_14633del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.884_886del MANE Select | ENSP00000367282.4:p.Ile295del | |
| ENST00000378043.8:c.884_886del | ENSP00000367282.4:p.Ile295del | |
| ENST00000449131.6:c.704_706del | ENSP00000399709.2:p.Ile235del | |
| ENST00000524877.5:n.2515_2517del | ||
| ENST00000524926.5:c.1087_1089del | ENSP00000432681.1:p.Ser363del | |
| ENST00000526988.1:c.769_771del | ENSP00000433195.1:p.Ser257del | |
| ENST00000534553.5:c.164-2741_164-2739del | ENSP00000431189.1:n.164-2741_164-2739del | |
| NM_001139443.1:c.704_706del | NP_001132915.1:p.Ile235del | |
| NM_001300786.1:c.688-378_688-376del | NP_001287715.1:n.688-378_688-376del | |
| NM_001300787.1:c.704_706del | NP_001287716.1:p.Ile235del | |
| NM_004183.3:c.884_886del | NP_004174.1:p.Ile295del | |
| XM_005274210.2:c.884_886del | XP_005274267.1:p.Ile295del | |
| XM_005274215.2:c.566_568del | XP_005274272.1:p.Ile189del | |
| XM_005274216.2:c.907_909del | XP_005274273.1:p.Ser303del | |
| XM_005274218.3:c.769_771del | XP_005274275.1:p.Ser257del | |
| XM_005274219.2:c.867+1216_867+1218del | XP_005274276.1:n.867+1216_867+1218del | |
| XM_005274221.2:c.714+2050_714+2052del | XP_005274278.1:n.714+2050_714+2052del | |
| XM_011545229.1:c.884_886del | XP_011543531.1:p.Ile295del | |
| XM_011545230.1:c.791_793del | XP_011543532.1:p.Ile264del | |
| XM_011545231.1:c.566_568del | XP_011543533.1:p.Ile189del | |
| XM_011545232.1:c.1087_1089del | XP_011543534.1:p.Ser363del | |
| XM_011545233.1:c.41_43del | XP_011543535.1:p.Ile14del | |
| NM_001363591.1:c.566_568del | NP_001350520.1:p.Ile189del | |
| NM_001363592.1:c.1087_1089del | NP_001350521.1:p.Ser363del | |
| NM_001363593.1:c.-89_-87del | NP_001350522.1:n.-89_-87del | |
| NR_134580.1:n.1667_1669del | ||
| XM_005274210.4:c.884_886del | XP_005274267.1:p.Ile295del | |
| XM_005274215.4:c.566_568del | XP_005274272.1:p.Ile189del | |
| XM_005274216.4:c.907_909del | XP_005274273.1:p.Ser303del | |
| XM_005274219.4:c.867+1216_867+1218del | XP_005274276.1:n.867+1216_867+1218del | |
| XM_005274221.4:c.714+2050_714+2052del | XP_005274278.1:n.714+2050_714+2052del | |
| XM_011545229.3:c.884_886del | XP_011543531.1:p.Ile295del | |
| XM_011545230.3:c.791_793del | XP_011543532.1:p.Ile264del | |
| XM_011545233.3:c.41_43del | XP_011543535.1:p.Ile14del | |
| XM_017018230.2:c.769_771del | XP_016873719.1:p.Ser257del | |
| XR_001747952.2:n.1585_1587del | ||
| XR_001747953.2:n.1557+1216_1557+1218del | ||
| XR_001747954.2:n.1404+2050_1404+2052del | ||
| XR_001748245.1:n.196+219_196+221del | ||
| XR_002957249.1:n.196+219_196+221del | ||
| NM_004183.4:c.884_886del MANE Select | NP_004174.1:p.Ile295del | |
| NM_001139443.2:c.704_706del | NP_001132915.1:p.Ile235del | |
| NM_001300786.2:c.688-378_688-376del | NP_001287715.1:n.688-378_688-376del | |
| NM_001300787.2:c.704_706del | NP_001287716.1:p.Ile235del | |
| NM_001363591.2:c.566_568del | NP_001350520.1:p.Ile189del | |
| NM_001363593.2:c.-89_-87del | NP_001350522.1:n.-89_-87del | |
| NR_134580.2:n.1200_1202del |