Linked Data
dbSNP Id:
rs1203060272
gnomAD v3:
3-43699414-TATATCTC-T
gnomAD v4:
3-43699414-TATATCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43699417_43699423del , CM000665.2:g.43699417_43699423del | GRCh38 |
| NC_000003.11:g.43740909_43740915del , CM000665.1:g.43740909_43740915del | GRCh37 |
| NC_000003.10:g.43715913_43715919del | NCBI36 |
| NG_007090.3:g.13535_13541del | |
| NG_007090.5:g.13548_13554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013894.3:c.133+56_133+62del | ENSP00000013894.2:n.133+56_133+62del | |
| ENST00000454293.2:c.10+56_10+62del | ENSP00000412014.2:n.10+56_10+62del | |
| ENST00000458276.7:c.133+56_133+62del | ENSP00000390849.3:n.133+56_133+62del | |
| ENST00000642351.1:c.10+56_10+62del | ENSP00000494478.1:n.10+56_10+62del | |
| ENST00000643140.1:c.133+56_133+62del | ENSP00000495588.1:n.133+56_133+62del | |
| ENST00000643477.1:c.133+56_133+62del | ENSP00000496220.1:n.133+56_133+62del | |
| ENST00000643500.1:c.133+56_133+62del | ENSP00000494735.1:n.133+56_133+62del | |
| ENST00000643520.1:n.181+56_181+62del | ||
| ENST00000644371.2:c.133+56_133+62del MANE Select | ENSP00000495778.1:n.133+56_133+62del | |
| ENST00000646378.1:c.*183+56_*183+62del | ENSP00000495826.1:n.*183+56_*183+62del | |
| ENST00000646799.1:c.133+56_133+62del | ENSP00000494829.1:n.133+56_133+62del | |
| ENST00000649763.1:c.133+56_133+62del | ENSP00000497701.1:n.133+56_133+62del | |
| ENST00000013894.2:c.133+56_133+62del | ENSP00000013894.2:n.133+56_133+62del | |
| ENST00000454293.1:c.10+56_10+62del | ENSP00000412014.1:n.10+56_10+62del | |
| ENST00000456453.5:c.10+56_10+62del | ENSP00000391582.1:n.10+56_10+62del | |
| ENST00000458276.6:c.133+56_133+62del | ENSP00000390849.2:n.133+56_133+62del | |
| ENST00000486764.1:n.290_296del | ||
| NM_016006.4:c.133+56_133+62del | NP_057090.2:n.133+56_133+62del | |
| XM_011533779.1:c.10+56_10+62del | XP_011532081.1:n.10+56_10+62del | |
| XM_011533780.1:c.133+56_133+62del | XP_011532082.1:n.133+56_133+62del | |
| XR_940447.1:n.190+56_190+62del | ||
| NM_001355186.1:c.133+56_133+62del | NP_001342115.1:n.133+56_133+62del | |
| NM_001365649.1:c.10+56_10+62del | NP_001352578.1:n.10+56_10+62del | |
| NM_001365650.1:c.133+56_133+62del | NP_001352579.1:n.133+56_133+62del | |
| NM_016006.5:c.133+56_133+62del | NP_057090.2:n.133+56_133+62del | |
| NR_158560.1:n.256+56_256+62del | ||
| NM_001355186.2:c.133+56_133+62del | NP_001342115.1:n.133+56_133+62del | |
| NM_016006.6:c.133+56_133+62del MANE Select | NP_057090.2:n.133+56_133+62del |