Linked Data
gnomAD v4:
6-49459223-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459224_49459225insTT , CM000668.2:g.49459224_49459225insTT | GRCh38 |
| NC_000006.11:g.49426937_49426938insTT , CM000668.1:g.49426937_49426938insTT | GRCh37 |
| NC_000006.10:g.49534896_49534897insTT | NCBI36 |
| NG_007100.1:g.8916_8917insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.243_244insAA MANE Select | ENSP00000274813.3:p.Pro82AsnfsTer8 | |
| ENST00000274813.3:c.243_244insAA | ENSP00000274813.3:p.Pro82AsnfsTer8 | |
| NM_000255.3:c.243_244insAA | NP_000246.2:p.Pro82AsnfsTer8 | |
| XM_005249143.2:c.243_244insAA | XP_005249200.1:p.Pro82AsnfsTer8 | |
| XM_005249143.3:c.243_244insAA | XP_005249200.1:p.Pro82AsnfsTer8 | |
| NM_000255.4:c.243_244insAA MANE Select | NP_000246.2:p.Pro82AsnfsTer8 |