Linked Data
dbSNP Id:
rs1236318559
gnomAD v2:
X-136649107-GCCACCATCACCA-G
gnomAD v3:
X-137566948-GCCACCATCACCA-G
gnomAD v4:
X-137566948-GCCACCATCACCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566961_137566972del , CM000685.2:g.137566961_137566972del | GRCh38 |
| NC_000023.10:g.136649120_136649131del , CM000685.1:g.136649120_136649131del | GRCh37 |
| NC_000023.9:g.136476786_136476797del | NCBI36 |
| NG_008115.1:g.5775_5786del | |
| NG_008115.2:g.5835_5846del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.270_281del MANE Select | ENSP00000287538.5:p.His91_His94del | |
| ENST00000287538.9:c.270_281del | ENSP00000287538.5:p.His91_His94del | |
| ENST00000370606.3:c.270_281del | ENSP00000359638.3:p.His91_His94del | |
| NM_003413.3:c.270_281del | NP_003404.1:p.His91_His94del | |
| NM_001330661.1:c.270_281del | NP_001317590.1:p.His91_His94del | |
| NM_003413.4:c.270_281del MANE Select | NP_003404.1:p.His91_His94del |