Linked Data
dbSNP Id:
rs892565021
gnomAD v2:
6-111726322-A-AG
gnomAD v3:
6-111405119-A-AG
gnomAD v4:
6-111405119-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111405119_111405120insG , CM000668.2:g.111405119_111405120insG | GRCh38 |
| NC_000006.11:g.111726322_111726323insG , CM000668.1:g.111726322_111726323insG | GRCh37 |
| NC_000006.10:g.111833015_111833016insG | NCBI36 |
| NG_053000.1:g.83596_83597insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368802.8:c.565+350_565+351insC (REV3L) MANE Select | ENSP00000357792.3:n.565+350_565+351insC | |
| ENST00000660710.1:n.1976_1977insG (MFSD4B) | ||
| ENST00000673446.1:n.248-35584_248-35583insG (MFSD4B) | ||
| ENST00000358835.7:c.565+350_565+351insC (REV3L) | ENSP00000351697.3:n.565+350_565+351insC | |
| ENST00000368802.7:c.565+350_565+351insC (REV3L) | ENSP00000357792.3:n.565+350_565+351insC | |
| ENST00000368805.5:c.565+350_565+351insC (REV3L) | ENSP00000357795.1:n.565+350_565+351insC | |
| ENST00000422377.5:c.*549+350_*549+351insC (REV3L) | ENSP00000393184.1:n.*549+350_*549+351insC | |
| ENST00000434009.5:c.*656+350_*656+351insC (REV3L) | ENSP00000391605.1:n.*656+350_*656+351insC | |
| ENST00000435970.5:c.331+350_331+351insC (REV3L) | ENSP00000402003.1:n.331+350_331+351insC | |
| ENST00000460981.1:n.163+350_163+351insC (REV3L) | ||
| NM_001286431.1:c.331+350_331+351insC (REV3L) | NP_001273360.1:n.331+350_331+351insC | |
| NM_001286432.1:c.331+350_331+351insC (REV3L) | NP_001273361.1:n.331+350_331+351insC | |
| NM_002912.4:c.565+350_565+351insC (REV3L) | NP_002903.3:n.565+350_565+351insC | |
| XM_006715543.2:c.565+350_565+351insC (REV3L) | XP_006715606.1:n.565+350_565+351insC | |
| XM_006715544.2:c.331+350_331+351insC (REV3L) | XP_006715607.1:n.331+350_331+351insC | |
| XM_011536028.1:c.565+350_565+351insC (REV3L) | XP_011534330.1:n.565+350_565+351insC | |
| XM_011536029.1:c.565+350_565+351insC (REV3L) | XP_011534331.1:n.565+350_565+351insC | |
| XM_011536030.1:c.565+350_565+351insC (REV3L) | XP_011534332.1:n.565+350_565+351insC | |
| XM_011536031.1:c.331+350_331+351insC (REV3L) | XP_011534333.1:n.331+350_331+351insC | |
| XM_011536032.1:c.331+350_331+351insC (REV3L) | XP_011534334.1:n.331+350_331+351insC | |
| XM_011536033.1:c.565+350_565+351insC (REV3L) | XP_011534335.1:n.565+350_565+351insC | |
| XM_011536034.1:c.565+350_565+351insC (REV3L) | XP_011534336.1:n.565+350_565+351insC | |
| XM_011536035.1:c.565+350_565+351insC (REV3L) | XP_011534337.1:n.565+350_565+351insC | |
| XM_011536036.1:c.565+350_565+351insC (REV3L) | XP_011534338.1:n.565+350_565+351insC | |
| XR_942545.1:n.1114+350_1114+351insC (REV3L) | ||
| XR_942546.1:n.1114+350_1114+351insC (REV3L) | ||
| XM_011536028.2:c.565+350_565+351insC (REV3L) | XP_011534330.1:n.565+350_565+351insC | |
| XM_011536029.3:c.565+350_565+351insC (REV3L) | XP_011534331.1:n.565+350_565+351insC | |
| XM_011536030.3:c.565+350_565+351insC (REV3L) | XP_011534332.1:n.565+350_565+351insC | |
| XM_011536031.3:c.331+350_331+351insC (REV3L) | XP_011534333.1:n.331+350_331+351insC | |
| XM_011536032.2:c.331+350_331+351insC (REV3L) | XP_011534334.1:n.331+350_331+351insC | |
| XM_011536036.3:c.565+350_565+351insC (REV3L) | XP_011534338.1:n.565+350_565+351insC | |
| XM_017011152.2:c.331+350_331+351insC (REV3L) | XP_016866641.1:n.331+350_331+351insC | |
| XM_017011153.1:c.331+350_331+351insC (REV3L) | XP_016866642.1:n.331+350_331+351insC | |
| XM_017011154.1:c.331+350_331+351insC (REV3L) | XP_016866643.1:n.331+350_331+351insC | |
| XM_017011155.2:c.565+350_565+351insC (REV3L) | XP_016866644.1:n.565+350_565+351insC | |
| XR_001743550.2:n.861+350_861+351insC (REV3L) | ||
| XR_001743552.2:n.861+350_861+351insC (REV3L) | ||
| XR_001743553.2:n.861+350_861+351insC (REV3L) | ||
| XR_001743554.2:n.861+350_861+351insC (REV3L) | ||
| XR_001743555.2:n.861+350_861+351insC (REV3L) | ||
| XR_001743556.2:n.861+350_861+351insC (REV3L) | ||
| XR_002956293.1:n.861+350_861+351insC (REV3L) | ||
| NM_001286431.2:c.331+350_331+351insC (REV3L) | NP_001273360.1:n.331+350_331+351insC | |
| NM_001372078.1:c.565+350_565+351insC (REV3L) MANE Select | NP_001359007.1:n.565+350_565+351insC | |
| NM_001286432.2:c.331+350_331+351insC (REV3L) | NP_001273361.1:n.331+350_331+351insC | |
| NM_002912.5:c.565+350_565+351insC (REV3L) | NP_002903.3:n.565+350_565+351insC |