Linked Data
gnomAD v4:
16-88427387-CGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88427389_88427391del , CM000678.2:g.88427389_88427391del | GRCh38 |
| NC_000016.9:g.88493797_88493799del , CM000678.1:g.88493797_88493799del | GRCh37 |
| NC_000016.8:g.87021298_87021300del | NCBI36 |
| NG_012236.2:g.4919_4921del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000565624.3:c.-82_-80del MANE Select | ENSP00000456500.2:n.-82_-80del | |
| XM_011523386.1:c.-82_-80del | XP_011521688.1:n.-82_-80del | |
| XM_011523387.1:c.-82_-80del | XP_011521689.1:n.-82_-80del | |
| XM_011523388.1:c.-82_-80del | XP_011521690.1:n.-82_-80del | |
| XM_017023784.1:c.-82_-80del | XP_016879273.1:n.-82_-80del | |
| XM_017023785.1:c.-82_-80del | XP_016879274.1:n.-82_-80del | |
| XR_002957934.1:n.250+2574_250+2576del | ||
| NM_001367624.2:c.-82_-80del MANE Select | NP_001354553.1:n.-82_-80del |