Linked Data
dbSNP Id:
rs2148360182
gnomAD v3:
X-153690507-GTGAGCAGC-G
gnomAD v4:
X-153690507-GTGAGCAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153690508_153690515del , CM000685.2:g.153690508_153690515del | GRCh38 |
| NC_000023.10:g.152955963_152955970del , CM000685.1:g.152955963_152955970del | GRCh37 |
| NC_000023.9:g.152609157_152609164del | NCBI36 |
| NG_012016.1:g.7212_7219del | |
| NG_012016.2:g.7212_7219del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.394+2_394+9del MANE Select | ENSP00000253122.5:n.394+2_394+9del | |
| ENST00000675713.1:n.148+2_148+9del | ||
| ENST00000253122.9:c.394+2_394+9del | ENSP00000253122.5:n.394+2_394+9del | |
| ENST00000430077.6:c.49+2_49+9del | ENSP00000403041.2:n.49+2_49+9del | |
| ENST00000476466.1:n.248_255del | ||
| NM_001142805.1:c.394+2_394+9del | NP_001136277.1:n.394+2_394+9del | |
| NM_001142806.1:c.49+2_49+9del | NP_001136278.1:n.49+2_49+9del | |
| NM_005629.3:c.394+2_394+9del | NP_005620.1:n.394+2_394+9del | |
| NM_005629.4:c.394+2_394+9del MANE Select | NP_005620.1:n.394+2_394+9del | |
| NM_001142805.2:c.394+2_394+9del | NP_001136277.1:n.394+2_394+9del |