Linked Data
gnomAD v4:
22-19724381-GCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19724382_19724384del , CM000684.2:g.19724382_19724384del | GRCh38 |
| NC_000022.10:g.19711905_19711907del , CM000684.1:g.19711905_19711907del | GRCh37 |
| NC_000022.9:g.18091905_18091907del | NCBI36 |
| NG_007974.1:g.5840_5842del , LRG_478:g.5840_5842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366425.4:c.539_541del (GP1BB) MANE Select | ENSP00000383382.2:p.Ala180_Arg181delinsGly | |
| ENST00000366425.3:c.539_541del (GP1BB) | ENSP00000383382.2:p.Ala180_Arg181delinsGly | |
| ENST00000431044.5:c.*1624_*1626del (SEPTIN5) | ENSP00000399685.1:n.*1624_*1626del | |
| NM_000407.4:c.539_541del , LRG_478t1:c.539_541del (GP1BB) | NP_000398.1:p.Ala180_Arg181delinsGly | |
| NR_037611.1:n.4279_4281del | ||
| NR_037612.1:n.2783_2785del | ||
| NM_000407.5:c.539_541del (GP1BB) MANE Select | NP_000398.1:p.Ala180_Arg181delinsGly |