Linked Data
dbSNP Id:
rs1157983196
gnomAD v2:
4-187130102-TTTCCTTCTG-T
gnomAD v3:
4-186208948-TTTCCTTCTG-T
gnomAD v4:
4-186208948-TTTCCTTCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208955_186208963del , CM000666.2:g.186208955_186208963del | GRCh38 |
| NC_000004.11:g.187130109_187130117del , CM000666.1:g.187130109_187130117del | GRCh37 |
| NC_000004.10:g.187367103_187367111del | NCBI36 |
| NG_007965.1:g.22436_22444del | |
| NG_012095.2:g.4977_4985del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1181_1189del MANE Select | ENSP00000368079.4:p.Ser394_Pro396del | |
| ENST00000378802.4:c.1181_1189del | ENSP00000368079.4:p.Ser394_Pro396del | |
| ENST00000502665.1:n.416_424del | ||
| ENST00000507209.5:n.5879_5887del | ||
| ENST00000513354.5:n.271_279del | ||
| NM_207352.3:c.1181_1189del | NP_997235.3:p.Ser394_Pro396del | |
| XM_005262935.2:c.1181_1189del | XP_005262992.1:p.Ser394_Pro396del | |
| XM_006714184.2:c.785_793del | XP_006714247.1:p.Ser262_Pro264del | |
| XM_005262935.4:c.1181_1189del | XP_005262992.1:p.Ser394_Pro396del | |
| XM_017008037.1:c.785_793del | XP_016863526.1:p.Ser262_Pro264del | |
| NM_207352.4:c.1181_1189del MANE Select | NP_997235.3:p.Ser394_Pro396del |