Linked Data
dbSNP Id:
rs763331497
ExAC:
X:47434003 GGAGA / G
gnomAD v2:
X-47434003-GGAGA-G
gnomAD v4:
X-47574604-GGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574607_47574610del , CM000685.2:g.47574607_47574610del | GRCh38 |
| NC_000023.10:g.47434006_47434009del , CM000685.1:g.47434006_47434009del | GRCh37 |
| NC_000023.9:g.47318950_47318953del | NCBI36 |
| NG_008437.1:g.50250_50253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1394-18_1394-15del MANE Select | ENSP00000295987.7:n.1394-18_1394-15del | |
| ENST00000340666.5:c.1394-18_1394-15del | ENSP00000343206.4:n.1394-18_1394-15del | |
| ENST00000640721.1:c.70+80_70+83del | ENSP00000492857.1:n.70+80_70+83del | |
| ENST00000295987.11:c.1394-18_1394-15del | ENSP00000295987.7:n.1394-18_1394-15del | |
| ENST00000340666.4:c.1394-18_1394-15del | ENSP00000343206.4:n.1394-18_1394-15del | |
| NM_006950.3:c.1394-18_1394-15del MANE Select | NP_008881.2:n.1394-18_1394-15del | |
| NM_133499.2:c.1394-18_1394-15del | NP_598006.1:n.1394-18_1394-15del |