Linked Data
gnomAD v4:
7-142954166-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954171del , CM000669.2:g.142954171del | GRCh38 |
| NC_000007.13:g.142651258del , CM000669.1:g.142651258del | GRCh37 |
| NC_000007.12:g.142361380del | NCBI36 |
| NG_007492.1:g.13250del | |
| NG_007492.2:g.13250del | |
| NG_007492.3:g.13250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.924+17del MANE Select | ENSP00000347409.2:n.924+17del | |
| ENST00000355265.6:c.924+17del | ENSP00000347409.2:n.924+17del | |
| ENST00000479768.6:n.1042+17del | ||
| NM_000420.2:c.924+17del | NP_000411.1:n.924+17del | |
| XM_005249993.2:c.960+17del | XP_005250050.1:n.960+17del | |
| XM_005249994.3:c.-24+17del | XP_005250051.1:n.-24+17del | |
| NM_000420.3:c.924+17del MANE Select | NP_000411.1:n.924+17del |