Linked Data
gnomAD v4:
6-49447899-TTAATGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447900_49447906del , CM000668.2:g.49447900_49447906del | GRCh38 |
| NC_000006.11:g.49415613_49415619del , CM000668.1:g.49415613_49415619del | GRCh37 |
| NC_000006.10:g.49523572_49523578del | NCBI36 |
| NG_007100.1:g.20234_20240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1445-121_1445-115del MANE Select | ENSP00000274813.3:n.1445-121_1445-115del | |
| ENST00000274813.3:c.1445-121_1445-115del | ENSP00000274813.3:n.1445-121_1445-115del | |
| NM_000255.3:c.1445-121_1445-115del | NP_000246.2:n.1445-121_1445-115del | |
| XM_005249143.2:c.1445-121_1445-115del | XP_005249200.1:n.1445-121_1445-115del | |
| XM_005249143.3:c.1445-121_1445-115del | XP_005249200.1:n.1445-121_1445-115del | |
| NM_000255.4:c.1445-121_1445-115del MANE Select | NP_000246.2:n.1445-121_1445-115del |