Linked Data
dbSNP Id:
rs1377690289
gnomAD v2:
16-1560493-AGGGGGTGCAGCCGCCAAGGCCC-A
gnomAD v3:
16-1510492-AGGGGGTGCAGCCGCCAAGGCCC-A
gnomAD v4:
16-1510492-AGGGGGTGCAGCCGCCAAGGCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510496_1510517del , CM000678.2:g.1510496_1510517del | GRCh38 |
| NC_000016.9:g.1560497_1560518del , CM000678.1:g.1560497_1560518del | GRCh37 |
| NC_000016.8:g.1500498_1500519del | NCBI36 |
| NG_032783.1:g.106595_106616del | |
| NG_050910.1:g.22153_22174del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.*430_*451del MANE Select | ENSP00000406012.2:n.*430_*451del | |
| ENST00000361339.9:c.*430_*451del | ENSP00000354895.5:n.*430_*451del | |
| ENST00000397417.6:c.*3257_*3278del | ENSP00000380562.2:n.*3257_*3278del | |
| ENST00000426508.6:c.*430_*451del | ENSP00000406012.2:n.*430_*451del | |
| ENST00000565298.5:n.4643_4664del | ||
| NM_014714.3:c.*430_*451del | NP_055529.2:n.*430_*451del | |
| XM_006720989.2:c.*430_*451del | XP_006721052.1:n.*430_*451del | |
| XM_006720990.2:c.*430_*451del | XP_006721053.1:n.*430_*451del | |
| XM_006720991.2:c.*430_*451del | XP_006721054.1:n.*430_*451del | |
| XM_006720992.2:c.*430_*451del | XP_006721055.1:n.*430_*451del | |
| XM_011522766.1:c.*430_*451del | XP_011521068.1:n.*430_*451del | |
| XM_011522767.1:c.*430_*451del | XP_011521069.1:n.*430_*451del | |
| XM_006720990.3:c.*430_*451del | XP_006721053.1:n.*430_*451del | |
| XM_006720991.3:c.*430_*451del | XP_006721054.1:n.*430_*451del | |
| XM_006720992.3:c.*430_*451del | XP_006721055.1:n.*430_*451del | |
| XM_011522766.3:c.*430_*451del | XP_011521068.1:n.*430_*451del | |
| XM_011522767.2:c.*430_*451del | XP_011521069.1:n.*430_*451del | |
| XM_017023910.1:c.*430_*451del | XP_016879399.1:n.*430_*451del | |
| XM_017023911.1:c.*430_*451del | XP_016879400.1:n.*430_*451del | |
| NM_014714.4:c.*430_*451del MANE Select | NP_055529.2:n.*430_*451del |