Linked Data
gnomAD v4:
12-52675450-C-CATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675450_52675451insATA , CM000674.2:g.52675450_52675451insATA | GRCh38 |
| NC_000012.11:g.53069234_53069235insATA , CM000674.1:g.53069234_53069235insATA | GRCh37 |
| NC_000012.10:g.51355501_51355502insATA | NCBI36 |
| NG_008364.1:g.9957_9958insTAT | |
| NG_008364.2:g.9957_9958insTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1677_1678insTAT MANE Select | ENSP00000252244.3:p.Tyr559_Gly560insTyr | |
| NM_006121.3:c.1677_1678insTAT | NP_006112.3:p.Tyr559_Gly560insTyr | |
| NM_006121.4:c.1677_1678insTAT MANE Select | NP_006112.3:p.Tyr559_Gly560insTyr |