Linked Data
dbSNP Id:
rs769243052
ExAC:
3:121975910 ACTT / A
gnomAD v2:
3-121975910-ACTT-A
gnomAD v4:
3-122257063-ACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122257070_122257072del , CM000665.2:g.122257070_122257072del | GRCh38 |
| NC_000003.11:g.121975917_121975919del , CM000665.1:g.121975917_121975919del | GRCh37 |
| NC_000003.10:g.123458607_123458609del | NCBI36 |
| NG_009058.1:g.78388_78390del | |
| NG_009058.2:g.78403_78405del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.186-11_186-9del | ENSP00000418685.2:n.186-11_186-9del | |
| ENST00000498619.4:c.186-11_186-9del | ENSP00000420194.1:n.186-11_186-9del | |
| ENST00000638296.1:n.105-11_105-9del | ||
| ENST00000638421.1:c.186-11_186-9del | ENSP00000492190.1:n.186-11_186-9del | |
| ENST00000639785.2:c.186-11_186-9del MANE Select | ENSP00000491584.2:n.186-11_186-9del | |
| ENST00000490131.5:c.186-11_186-9del | ENSP00000418685.1:n.186-11_186-9del | |
| ENST00000490186.1:n.45-11_45-9del | ||
| ENST00000498619.2:c.186-11_186-9del | ENSP00000420194.1:n.186-11_186-9del | |
| NM_000388.3:c.186-11_186-9del | NP_000379.2:n.186-11_186-9del | |
| NM_001178065.1:c.186-11_186-9del | NP_001171536.1:n.186-11_186-9del | |
| XM_005247836.2:c.186-11_186-9del | XP_005247893.1:n.186-11_186-9del | |
| XM_005247837.2:c.9+2696_9+2698del | XP_005247894.1:n.9+2696_9+2698del | |
| XM_006713789.2:c.186-11_186-9del | XP_006713852.1:n.186-11_186-9del | |
| XM_011513237.1:c.186-11_186-9del | XP_011511539.1:n.186-11_186-9del | |
| XM_011513238.1:c.186-11_186-9del | XP_011511540.1:n.186-11_186-9del | |
| XM_006713789.3:c.186-11_186-9del | XP_006713852.1:n.186-11_186-9del | |
| XM_017007324.1:c.186-11_186-9del | XP_016862813.1:n.186-11_186-9del | |
| XM_017007325.1:c.186-11_186-9del | XP_016862814.1:n.186-11_186-9del | |
| NM_000388.4:c.186-11_186-9del MANE Select | NP_000379.3:n.186-11_186-9del | |
| NM_001178065.2:c.186-11_186-9del | NP_001171536.2:n.186-11_186-9del |