Linked Data
dbSNP Id:
rs1778192799
gnomAD v3:
6-88163138-C-CTGGATTAACTTTATAACA
gnomAD v4:
6-88163138-C-CTGGATTAACTTTATAACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.88163140_88163157dup , CM000668.2:g.88163140_88163157dup | GRCh38 |
| NC_000006.11:g.88872859_88872876dup , CM000668.1:g.88872859_88872876dup | GRCh37 |
| NC_000006.10:g.88929578_88929595dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369499.3:c.-64+1101_-64+1118dup | ENSP00000358511.2:n.-64+1101_-64+1118dup | |
| ENST00000369501.3:c.-64+2647_-64+2664dup MANE Select | ENSP00000358513.2:n.-64+2647_-64+2664dup | |
| ENST00000551417.2:c.-207+1101_-207+1118dup | ENSP00000446702.2:n.-207+1101_-207+1118du... | |
| ENST00000369499.2:c.-64+1101_-64+1118dup | ENSP00000358511.2:n.-64+1101_-64+1118dup | |
| ENST00000369501.2:c.-64+2647_-64+2664dup | ENSP00000358513.2:n.-64+2647_-64+2664dup | |
| ENST00000551417.1:c.-207+1101_-207+1118dup | ENSP00000446702.1:n.-207+1101_-207+1118du... | |
| NM_001160226.1:c.-207+2647_-207+2664dup | NP_001153698.1:n.-207+2647_-207+2664dup | |
| NM_001160258.1:c.-207+1101_-207+1118dup | NP_001153730.1:n.-207+1101_-207+1118dup | |
| NM_001160259.1:c.-64+2591_-64+2608dup | NP_001153731.1:n.-64+2591_-64+2608dup | |
| NM_016083.4:c.-64+2647_-64+2664dup | NP_057167.2:n.-64+2647_-64+2664dup | |
| XM_006715330.2:c.-64+3420_-64+3437dup | XP_006715393.1:n.-64+3420_-64+3437dup | |
| XM_011535424.1:c.-255+2647_-255+2664dup | XP_011533726.1:n.-255+2647_-255+2664dup | |
| XM_011535425.1:c.-255+1101_-255+1118dup | XP_011533727.1:n.-255+1101_-255+1118dup | |
| XM_011535426.1:c.-413+1101_-413+1118dup | XP_011533728.1:n.-413+1101_-413+1118dup | |
| XM_011535427.1:c.-366+1101_-366+1118dup | XP_011533729.1:n.-366+1101_-366+1118dup | |
| XM_011535428.1:c.-64+1101_-64+1118dup | XP_011533730.1:n.-64+1101_-64+1118dup | |
| NM_001160226.2:c.-207+2647_-207+2664dup | NP_001153698.1:n.-207+2647_-207+2664dup | |
| NM_001160258.2:c.-207+1101_-207+1118dup | NP_001153730.1:n.-207+1101_-207+1118dup | |
| NM_001160259.2:c.-64+2591_-64+2608dup | NP_001153731.1:n.-64+2591_-64+2608dup | |
| NM_001365869.1:c.-64+1101_-64+1118dup | NP_001352798.1:n.-64+1101_-64+1118dup | |
| NM_001365870.1:c.-255+2647_-255+2664dup | NP_001352799.1:n.-255+2647_-255+2664dup | |
| NM_001365872.1:c.-413+1101_-413+1118dup | NP_001352801.1:n.-413+1101_-413+1118dup | |
| NM_016083.5:c.-64+2647_-64+2664dup | NP_057167.2:n.-64+2647_-64+2664dup | |
| XM_006715330.3:c.-64+3420_-64+3437dup | XP_006715393.1:n.-64+3420_-64+3437dup | |
| XM_011535425.2:c.-255+1101_-255+1118dup | XP_011533727.1:n.-255+1101_-255+1118dup | |
| XM_017010240.2:c.-64+4034_-64+4051dup | XP_016865729.1:n.-64+4034_-64+4051dup | |
| NM_001160226.3:c.-207+2647_-207+2664dup | NP_001153698.1:n.-207+2647_-207+2664dup | |
| NM_001160258.3:c.-207+1101_-207+1118dup | NP_001153730.1:n.-207+1101_-207+1118dup | |
| NM_001160259.3:c.-64+2591_-64+2608dup | NP_001153731.1:n.-64+2591_-64+2608dup | |
| NM_001365869.2:c.-64+1101_-64+1118dup | NP_001352798.1:n.-64+1101_-64+1118dup | |
| NM_001365870.2:c.-255+2647_-255+2664dup | NP_001352799.1:n.-255+2647_-255+2664dup | |
| NM_001365872.2:c.-413+1101_-413+1118dup | NP_001352801.1:n.-413+1101_-413+1118dup | |
| NM_001370545.1:c.-64+3420_-64+3437dup | NP_001357474.1:n.-64+3420_-64+3437dup | |
| NM_001370546.1:c.-64+4034_-64+4051dup | NP_001357475.1:n.-64+4034_-64+4051dup | |
| NM_001370547.1:c.-255+1101_-255+1118dup | NP_001357476.1:n.-255+1101_-255+1118dup | |
| NM_016083.6:c.-64+2647_-64+2664dup MANE Select | NP_057167.2:n.-64+2647_-64+2664dup |