Linked Data
dbSNP Id:
rs900087913
gnomAD v2:
6-118993537-AT-A
gnomAD v3:
6-118672374-AT-A
gnomAD v4:
6-118672374-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118672382del , CM000668.2:g.118672382del | GRCh38 |
| NC_000006.11:g.118993545del , CM000668.1:g.118993545del | GRCh37 |
| NC_000006.10:g.119100238del | NCBI36 |
| NG_021248.1:g.42701del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368488.9:c.-27-19567del | ENSP00000357474.5:n.-27-19567del | |
| ENST00000392500.7:c.-138-7854del | ENSP00000376288.3:n.-138-7854del | |
| ENST00000434604.5:c.-27-19567del | ENSP00000392131.1:n.-27-19567del | |
| NM_001178035.1:c.-27-19567del | NP_001171506.1:n.-27-19567del | |
| XM_011535811.1:c.-234+37661del | XP_011534113.1:n.-234+37661del | |
| XR_942917.1:n.544+7232del | ||
| XR_942918.1:n.545-6862del | ||
| XM_011535810.2:c.-138-7854del | XP_011534112.1:n.-138-7854del | |
| XM_017010846.1:c.-138-7854del | XP_016866335.1:n.-138-7854del | |
| XM_024446429.1:c.-1650-7854del | XP_024302197.1:n.-1650-7854del | |
| XM_024446430.1:c.-1650-7854del | XP_024302198.1:n.-1650-7854del | |
| NM_001178035.2:c.-27-19567del | NP_001171506.1:n.-27-19567del |