Linked Data
dbSNP Id:
rs1644490693
gnomAD v3:
1-11805638-GGGGCCCCTCCGTCCAGGC-G
gnomAD v4:
1-11805638-GGGGCCCCTCCGTCCAGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11805639_11805656del , CM000663.2:g.11805639_11805656del | GRCh38 |
| NC_000001.10:g.11865696_11865713del , CM000663.1:g.11865696_11865713del | GRCh37 |
| NC_000001.9:g.11788283_11788300del | NCBI36 |
| NG_008766.1:g.4490_4507del | |
| NG_013351.1:g.5448_5465del , LRG_726:g.5448_5465del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.-11+232_-11+249del | ENSP00000365669.3:n.-11+232_-11+249del | |
| ENST00000376590.9:c.-14+232_-14+249del MANE Select | ENSP00000365775.3:n.-14+232_-14+249del | |
| ENST00000641437.1:n.119+232_119+249del | ||
| ENST00000641446.1:c.-14+232_-14+249del | ENSP00000493262.1:n.-14+232_-14+249del | |
| ENST00000641747.1:c.-14+232_-14+249del | ENSP00000493116.1:n.-14+232_-14+249del | |
| ENST00000642002.1:n.216+232_216+249del | ||
| ENST00000376486.2:c.-14+232_-14+249del | ENSP00000365669.2:n.-14+232_-14+249del | |
| ENST00000376590.7:c.-14+232_-14+249del | ENSP00000365775.3:n.-14+232_-14+249del | |
| ENST00000418034.1:c.-323_-306del | ENSP00000405082.1:n.-323_-306del | |
| NM_005957.4:c.-14+232_-14+249del , LRG_726t1:c.-14+232_-14+249del | NP_005948.3:n.-14+232_-14+249del | |
| XM_005263460.3:c.-323_-306del | XP_005263517.1:n.-323_-306del | |
| XM_005263461.3:c.-320_-303del | XP_005263518.1:n.-320_-303del | |
| XM_005263462.3:c.-11+232_-11+249del | XP_005263519.1:n.-11+232_-11+249del | |
| XM_005263463.2:c.-277+232_-277+249del | XP_005263520.1:n.-277+232_-277+249del | |
| XM_005263460.5:c.-323_-306del | XP_005263517.1:n.-323_-306del | |
| XM_005263462.4:c.-11+232_-11+249del | XP_005263519.1:n.-11+232_-11+249del | |
| XM_005263463.4:c.-277+232_-277+249del | XP_005263520.1:n.-277+232_-277+249del | |
| NM_005957.5:c.-14+232_-14+249del MANE Select | NP_005948.3:n.-14+232_-14+249del |