Linked Data
gnomAD v4:
5-149977967-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977972del , CM000667.2:g.149977972del | GRCh38 |
| NC_000005.9:g.149357535del , CM000667.1:g.149357535del | GRCh37 |
| NC_000005.8:g.149337728del | NCBI36 |
| NG_007147.2:g.19090del , LRG_684:g.19090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.552del | ||
| ENST00000286298.5:c.320del MANE Select | ENSP00000286298.4:p.Asn107ThrfsTer3 | |
| ENST00000286298.4:c.320del | ENSP00000286298.4:p.Asn107ThrfsTer3 | |
| NM_000112.3:c.320del , LRG_684t1:c.320del | NP_000103.2:p.Asn107ThrfsTer3 | |
| XM_017009191.2:c.320del | XP_016864680.1:p.Asn107ThrfsTer3 | |
| NM_000112.4:c.320del MANE Select | NP_000103.2:p.Asn107ThrfsTer3 |