Linked Data
dbSNP Id:
rs1644707244
gnomAD v2:
1-6534744-CAGCTG-C
gnomAD v3:
1-6474684-CAGCTG-C
gnomAD v4:
1-6474684-CAGCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6474685_6474689del , CM000663.2:g.6474685_6474689del | GRCh38 |
| NC_000001.10:g.6534745_6534749del , CM000663.1:g.6534745_6534749del | GRCh37 |
| NC_000001.9:g.6457332_6457336del | NCBI36 |
| NG_007978.1:g.50321_50325del , LRG_262:g.50321_50325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.303-102_303-98del | ENSP00000344570.5:n.303-102_303-98del | |
| ENST00000377728.8:c.303-102_303-98del MANE Select | ENSP00000366957.3:n.303-102_303-98del | |
| ENST00000377740.5:c.303-102_303-98del | ENSP00000366969.4:n.303-102_303-98del | |
| ENST00000377748.6:c.477-102_477-98del | ENSP00000366977.2:n.477-102_477-98del | |
| ENST00000400913.6:c.303-102_303-98del | ENSP00000383704.1:n.303-102_303-98del | |
| ENST00000400915.8:c.414-102_414-98del | ENSP00000383706.4:n.414-102_414-98del | |
| ENST00000489097.6:n.677_681del | ||
| ENST00000535355.6:c.510-102_510-98del | ENSP00000441445.1:n.510-102_510-98del | |
| ENST00000537245.6:c.414-102_414-98del | ENSP00000439625.2:n.414-102_414-98del | |
| ENST00000673471.2:c.600-102_600-98del | ENSP00000500749.1:n.600-102_600-98del | |
| ENST00000674790.1:c.*515-102_*515-98del | ENSP00000502815.1:n.*515-102_*515-98del | |
| ENST00000675093.1:c.303-102_303-98del | ENSP00000502687.1:n.303-102_303-98del | |
| ENST00000675123.1:c.303-102_303-98del | ENSP00000502132.1:n.303-102_303-98del | |
| ENST00000675548.1:c.*131-102_*131-98del | ENSP00000502684.1:n.*131-102_*131-98del | |
| ENST00000675694.1:c.303-102_303-98del | ENSP00000501925.1:n.303-102_303-98del | |
| ENST00000676255.1:c.264+8_264+12del | ENSP00000502459.1:n.264+8_264+12del | |
| ENST00000676287.1:c.303-102_303-98del | ENSP00000502810.1:n.303-102_303-98del | |
| ENST00000340850.9:c.303-102_303-98del | ENSP00000344570.5:n.303-102_303-98del | |
| ENST00000377725.5:c.303-102_303-98del | ENSP00000366954.1:n.303-102_303-98del | |
| ENST00000377728.7:c.303-102_303-98del | ENSP00000366957.3:n.303-102_303-98del | |
| ENST00000377732.5:c.414-102_414-98del | ENSP00000366961.1:n.414-102_414-98del | |
| ENST00000377740.4:c.534-102_534-98del | ENSP00000366969.3:n.534-102_534-98del | |
| ENST00000377748.5:c.534-102_534-98del | ENSP00000366977.1:n.534-102_534-98del | |
| ENST00000400913.5:c.303-102_303-98del | ENSP00000383704.1:n.303-102_303-98del | |
| ENST00000400915.7:c.471-102_471-98del | ENSP00000383706.3:n.471-102_471-98del | |
| ENST00000489097.5:n.677_681del | ||
| ENST00000535355.5:c.510-102_510-98del | ENSP00000441445.1:n.510-102_510-98del | |
| ENST00000537245.5:c.540-102_540-98del | ENSP00000439625.1:n.540-102_540-98del | |
| NM_001042663.1:c.471-102_471-98del | NP_001036128.1:n.471-102_471-98del | |
| NM_001042664.1:c.303-102_303-98del | NP_001036129.1:n.303-102_303-98del | |
| NM_001042665.1:c.303-102_303-98del | NP_001036130.1:n.303-102_303-98del | |
| NM_001265592.1:c.540-102_540-98del | NP_001252521.1:n.540-102_540-98del | |
| NM_001265593.1:c.510-102_510-98del | NP_001252522.1:n.510-102_510-98del | |
| NM_001265594.1:c.303-102_303-98del | NP_001252523.1:n.303-102_303-98del | |
| NM_020631.4:c.303-102_303-98del | NP_065682.2:n.303-102_303-98del | |
| NM_198681.3:c.534-102_534-98del | NP_941374.2:n.534-102_534-98del | |
| NM_001042663.2:c.471-102_471-98del | NP_001036128.1:n.471-102_471-98del | |
| NM_001265594.2:c.303-102_303-98del | NP_001252523.1:n.303-102_303-98del | |
| NM_020631.5:c.303-102_303-98del | NP_065682.2:n.303-102_303-98del | |
| NM_001042663.3:c.414-102_414-98del | NP_001036128.2:n.414-102_414-98del | |
| NM_001265592.2:c.414-102_414-98del | NP_001252521.2:n.414-102_414-98del | |
| NM_020631.6:c.303-102_303-98del MANE Select | NP_065682.2:n.303-102_303-98del | |
| NM_198681.4:c.303-102_303-98del | NP_941374.3:n.303-102_303-98del |