Linked Data
dbSNP Id:
rs1208985909
gnomAD v2:
6-88872856-ACT-A
gnomAD v3:
6-88163137-ACT-A
gnomAD v4:
6-88163137-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.88163138_88163139del , CM000668.2:g.88163138_88163139del | GRCh38 |
| NC_000006.11:g.88872857_88872858del , CM000668.1:g.88872857_88872858del | GRCh37 |
| NC_000006.10:g.88929576_88929577del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369499.3:c.-64+1118_-64+1119del | ENSP00000358511.2:n.-64+1118_-64+1119del | |
| ENST00000369501.3:c.-64+2664_-64+2665del MANE Select | ENSP00000358513.2:n.-64+2664_-64+2665del | |
| ENST00000551417.2:c.-207+1118_-207+1119del | ENSP00000446702.2:n.-207+1118_-207+1119de... | |
| ENST00000369499.2:c.-64+1118_-64+1119del | ENSP00000358511.2:n.-64+1118_-64+1119del | |
| ENST00000369501.2:c.-64+2664_-64+2665del | ENSP00000358513.2:n.-64+2664_-64+2665del | |
| ENST00000551417.1:c.-207+1118_-207+1119del | ENSP00000446702.1:n.-207+1118_-207+1119de... | |
| NM_001160226.1:c.-207+2664_-207+2665del | NP_001153698.1:n.-207+2664_-207+2665del | |
| NM_001160258.1:c.-207+1118_-207+1119del | NP_001153730.1:n.-207+1118_-207+1119del | |
| NM_001160259.1:c.-64+2608_-64+2609del | NP_001153731.1:n.-64+2608_-64+2609del | |
| NM_016083.4:c.-64+2664_-64+2665del | NP_057167.2:n.-64+2664_-64+2665del | |
| XM_006715330.2:c.-64+3437_-64+3438del | XP_006715393.1:n.-64+3437_-64+3438del | |
| XM_011535424.1:c.-255+2664_-255+2665del | XP_011533726.1:n.-255+2664_-255+2665del | |
| XM_011535425.1:c.-255+1118_-255+1119del | XP_011533727.1:n.-255+1118_-255+1119del | |
| XM_011535426.1:c.-413+1118_-413+1119del | XP_011533728.1:n.-413+1118_-413+1119del | |
| XM_011535427.1:c.-366+1118_-366+1119del | XP_011533729.1:n.-366+1118_-366+1119del | |
| XM_011535428.1:c.-64+1118_-64+1119del | XP_011533730.1:n.-64+1118_-64+1119del | |
| NM_001160226.2:c.-207+2664_-207+2665del | NP_001153698.1:n.-207+2664_-207+2665del | |
| NM_001160258.2:c.-207+1118_-207+1119del | NP_001153730.1:n.-207+1118_-207+1119del | |
| NM_001160259.2:c.-64+2608_-64+2609del | NP_001153731.1:n.-64+2608_-64+2609del | |
| NM_001365869.1:c.-64+1118_-64+1119del | NP_001352798.1:n.-64+1118_-64+1119del | |
| NM_001365870.1:c.-255+2664_-255+2665del | NP_001352799.1:n.-255+2664_-255+2665del | |
| NM_001365872.1:c.-413+1118_-413+1119del | NP_001352801.1:n.-413+1118_-413+1119del | |
| NM_016083.5:c.-64+2664_-64+2665del | NP_057167.2:n.-64+2664_-64+2665del | |
| XM_006715330.3:c.-64+3437_-64+3438del | XP_006715393.1:n.-64+3437_-64+3438del | |
| XM_011535425.2:c.-255+1118_-255+1119del | XP_011533727.1:n.-255+1118_-255+1119del | |
| XM_017010240.2:c.-64+4051_-64+4052del | XP_016865729.1:n.-64+4051_-64+4052del | |
| NM_001160226.3:c.-207+2664_-207+2665del | NP_001153698.1:n.-207+2664_-207+2665del | |
| NM_001160258.3:c.-207+1118_-207+1119del | NP_001153730.1:n.-207+1118_-207+1119del | |
| NM_001160259.3:c.-64+2608_-64+2609del | NP_001153731.1:n.-64+2608_-64+2609del | |
| NM_001365869.2:c.-64+1118_-64+1119del | NP_001352798.1:n.-64+1118_-64+1119del | |
| NM_001365870.2:c.-255+2664_-255+2665del | NP_001352799.1:n.-255+2664_-255+2665del | |
| NM_001365872.2:c.-413+1118_-413+1119del | NP_001352801.1:n.-413+1118_-413+1119del | |
| NM_001370545.1:c.-64+3437_-64+3438del | NP_001357474.1:n.-64+3437_-64+3438del | |
| NM_001370546.1:c.-64+4051_-64+4052del | NP_001357475.1:n.-64+4051_-64+4052del | |
| NM_001370547.1:c.-255+1118_-255+1119del | NP_001357476.1:n.-255+1118_-255+1119del | |
| NM_016083.6:c.-64+2664_-64+2665del MANE Select | NP_057167.2:n.-64+2664_-64+2665del |