Linked Data
dbSNP Id:
rs752107009
ExAC:
6:111628793 GAAGT / G
gnomAD v2:
6-111628793-GAAGT-G
gnomAD v4:
6-111307590-GAAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111307594_111307597del , CM000668.2:g.111307594_111307597del | GRCh38 |
| NC_000006.11:g.111628797_111628800del , CM000668.1:g.111628797_111628800del | GRCh37 |
| NC_000006.10:g.111735490_111735493del | NCBI36 |
| NG_053000.1:g.181122_181125del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368802.8:c.9043-24_9043-21del (REV3L) MANE Select | ENSP00000357792.3:n.9043-24_9043-21del | |
| ENST00000666581.2:n.277+29436_277+29439del (MFSD4B) | ||
| ENST00000673245.1:n.273+11819_273+11822del (MFSD4B) | ||
| ENST00000673446.1:n.179+39757_179+39760del (MFSD4B) | ||
| ENST00000358835.7:c.9043-24_9043-21del (REV3L) | ENSP00000351697.3:n.9043-24_9043-21del | |
| ENST00000368802.7:c.9043-24_9043-21del (REV3L) | ENSP00000357792.3:n.9043-24_9043-21del | |
| ENST00000368805.5:c.9043-24_9043-21del (REV3L) | ENSP00000357795.1:n.9043-24_9043-21del | |
| ENST00000422377.5:c.*9027-24_*9027-21del (REV3L) | ENSP00000393184.1:n.*9027-24_*9027-21del | |
| ENST00000434009.5:c.*9134-24_*9134-21del (REV3L) | ENSP00000391605.1:n.*9134-24_*9134-21del | |
| ENST00000435970.5:c.8809-24_8809-21del (REV3L) | ENSP00000402003.1:n.8809-24_8809-21del | |
| ENST00000462119.5:n.1180-24_1180-21del (REV3L) | ||
| NM_001286431.1:c.8809-24_8809-21del (REV3L) | NP_001273360.1:n.8809-24_8809-21del | |
| NM_001286432.1:c.8809-24_8809-21del (REV3L) | NP_001273361.1:n.8809-24_8809-21del | |
| NM_002912.4:c.9043-24_9043-21del (REV3L) | NP_002903.3:n.9043-24_9043-21del | |
| XM_006715543.2:c.9043-24_9043-21del (REV3L) | XP_006715606.1:n.9043-24_9043-21del | |
| XM_006715544.2:c.8809-24_8809-21del (REV3L) | XP_006715607.1:n.8809-24_8809-21del | |
| XM_011536028.1:c.9124-24_9124-21del (REV3L) | XP_011534330.1:n.9124-24_9124-21del | |
| XM_011536029.1:c.9121-24_9121-21del (REV3L) | XP_011534331.1:n.9121-24_9121-21del | |
| XM_011536030.1:c.9046-24_9046-21del (REV3L) | XP_011534332.1:n.9046-24_9046-21del | |
| XM_011536031.1:c.8890-24_8890-21del (REV3L) | XP_011534333.1:n.8890-24_8890-21del | |
| XM_011536032.1:c.8890-24_8890-21del (REV3L) | XP_011534334.1:n.8890-24_8890-21del | |
| XR_942871.1:n.2045+29436_2045+29439del | ||
| XM_011536028.2:c.9124-24_9124-21del (REV3L) | XP_011534330.1:n.9124-24_9124-21del | |
| XM_011536029.3:c.9121-24_9121-21del (REV3L) | XP_011534331.1:n.9121-24_9121-21del | |
| XM_011536030.3:c.9046-24_9046-21del (REV3L) | XP_011534332.1:n.9046-24_9046-21del | |
| XM_011536031.3:c.8890-24_8890-21del (REV3L) | XP_011534333.1:n.8890-24_8890-21del | |
| XM_011536032.2:c.8890-24_8890-21del (REV3L) | XP_011534334.1:n.8890-24_8890-21del | |
| XM_017011152.2:c.8887-24_8887-21del (REV3L) | XP_016866641.1:n.8887-24_8887-21del | |
| XM_017011153.1:c.8887-24_8887-21del (REV3L) | XP_016866642.1:n.8887-24_8887-21del | |
| XM_017011154.1:c.8887-24_8887-21del (REV3L) | XP_016866643.1:n.8887-24_8887-21del | |
| XR_001743550.2:n.9229-24_9229-21del (REV3L) | ||
| XR_001743552.2:n.9151-24_9151-21del (REV3L) | ||
| XR_001743553.2:n.9547-24_9547-21del (REV3L) | ||
| XR_001743555.2:n.9469-24_9469-21del (REV3L) | ||
| XR_001743556.2:n.9276-24_9276-21del (REV3L) | ||
| XR_002956293.1:n.10487-24_10487-21del (REV3L) | ||
| NM_001286431.2:c.8809-24_8809-21del (REV3L) | NP_001273360.1:n.8809-24_8809-21del | |
| NM_001372078.1:c.9043-24_9043-21del (REV3L) MANE Select | NP_001359007.1:n.9043-24_9043-21del | |
| NM_001286432.2:c.8809-24_8809-21del (REV3L) | NP_001273361.1:n.8809-24_8809-21del | |
| NM_002912.5:c.9043-24_9043-21del (REV3L) | NP_002903.3:n.9043-24_9043-21del |