Linked Data
dbSNP Id:
rs1425917383
gnomAD v3:
6-42961138-GGCACTGCGAGT-G
gnomAD v4:
6-42961138-GGCACTGCGAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42961141_42961151del , CM000668.2:g.42961141_42961151del | GRCh38 |
| NC_000006.11:g.42928879_42928889del , CM000668.1:g.42928879_42928889del | GRCh37 |
| NC_000006.10:g.43036857_43036867del | NCBI36 |
| NG_008396.1:g.5380_5390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372808.4:c.206+168_206+178del MANE Select | ENSP00000361894.3:n.206+168_206+178del | |
| ENST00000372808.3:c.206+168_206+178del | ENSP00000361894.3:n.206+168_206+178del | |
| NM_018960.4:c.206+168_206+178del | NP_061833.1:n.206+168_206+178del | |
| XM_011514493.1:c.-13-1071_-13-1061del | XP_011512795.1:n.-13-1071_-13-1061del | |
| XM_011514494.1:c.-13-1071_-13-1061del | XP_011512796.1:n.-13-1071_-13-1061del | |
| NM_001318856.1:c.9-1071_9-1061del | NP_001305785.1:n.9-1071_9-1061del | |
| NM_001318857.1:c.152-1621_152-1611del | NP_001305786.1:n.152-1621_152-1611del | |
| NM_001318858.1:c.152-1621_152-1611del | NP_001305787.1:n.152-1621_152-1611del | |
| NM_001318865.1:c.206+168_206+178del | NP_001305794.1:n.206+168_206+178del | |
| NM_018960.5:c.206+168_206+178del | NP_061833.1:n.206+168_206+178del | |
| NR_134890.1:n.690-1621_690-1611del | ||
| NR_134891.1:n.593-1621_593-1611del | ||
| NR_134892.1:n.593-1071_593-1061del | ||
| NR_134899.1:n.220+168_220+178del | ||
| NM_018960.6:c.206+168_206+178del MANE Select | NP_061833.1:n.206+168_206+178del | |
| NM_001318856.2:c.9-1071_9-1061del | NP_001305785.1:n.9-1071_9-1061del | |
| NM_001318857.2:c.152-1621_152-1611del | NP_001305786.1:n.152-1621_152-1611del | |
| NM_001318858.2:c.152-1621_152-1611del | NP_001305787.1:n.152-1621_152-1611del | |
| NM_001318865.2:c.206+168_206+178del | NP_001305794.1:n.206+168_206+178del | |
| NR_134890.2:n.340-1621_340-1611del | ||
| NR_134891.2:n.243-1621_243-1611del | ||
| NR_134892.2:n.243-1071_243-1061del | ||
| NR_134899.2:n.220+168_220+178del |