Linked Data
dbSNP Id:
rs1214797805
gnomAD v2:
11-14774558-GA-G
gnomAD v3:
11-14753012-GA-G
gnomAD v4:
11-14753012-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14753014del , CM000673.2:g.14753014del | GRCh38 |
| NC_000011.9:g.14774560del , CM000673.1:g.14774560del | GRCh37 |
| NC_000011.8:g.14731136del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282096.9:c.979-18923del MANE Select | ENSP00000282096.4:n.979-18923del | |
| ENST00000282096.8:c.979-18923del | ENSP00000282096.4:n.979-18923del | |
| ENST00000455098.2:c.979-18923del | ENSP00000388644.2:n.979-18923del | |
| ENST00000534317.1:n.795-18923del | ||
| NM_000922.3:c.979-18923del | NP_000913.2:n.979-18923del | |
| XM_006718249.2:c.979-18923del | XP_006718312.1:n.979-18923del | |
| XM_011520183.1:c.979-18923del | XP_011518485.1:n.979-18923del | |
| NM_001363569.1:c.979-18923del | NP_001350498.1:n.979-18923del | |
| NM_001363570.1:c.979-18923del | NP_001350499.1:n.979-18923del | |
| XM_006718249.3:c.979-18923del | XP_006718312.1:n.979-18923del | |
| XM_017017911.2:c.979-18923del | XP_016873400.1:n.979-18923del | |
| XM_017017912.1:c.979-18923del | XP_016873401.1:n.979-18923del | |
| XR_001747903.2:n.1364-18923del | ||
| NM_000922.4:c.979-18923del MANE Select | NP_000913.2:n.979-18923del | |
| NM_001363569.2:c.979-18923del | NP_001350498.1:n.979-18923del | |
| NM_001363570.2:c.979-18923del | NP_001350499.1:n.979-18923del |