Linked Data
dbSNP Id:
rs759847039
ExAC:
11:122929205 TTAACTC / T
gnomAD v2:
11-122929205-TTAACTC-T
gnomAD v3:
11-123058497-TTAACTC-T
gnomAD v4:
11-123058497-TTAACTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123058501_123058506del , CM000673.2:g.123058501_123058506del | GRCh38 |
| NC_000011.9:g.122929209_122929214del , CM000673.1:g.122929209_122929214del | GRCh37 |
| NC_000011.8:g.122434419_122434424del | NCBI36 |
| NG_029473.1:g.8634_8639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1523-19_1523-14del MANE Select | ENSP00000432083.1:n.1523-19_1523-14del | |
| ENST00000227378.7:c.1523-19_1523-14del | ENSP00000227378.3:n.1523-19_1523-14del | |
| ENST00000453788.6:c.1387+264_1387+269del | ENSP00000404372.2:n.1387+264_1387+269del | |
| ENST00000524552.5:c.296-19_296-14del | ENSP00000435908.1:n.296-19_296-14del | |
| ENST00000526110.5:c.1466-19_1466-14del | ENSP00000433584.1:n.1466-19_1466-14del | |
| ENST00000526686.1:c.179-19_179-14del | ENSP00000435019.1:n.179-19_179-14del | |
| ENST00000532091.1:n.1626_1631del | ||
| ENST00000532636.5:c.1523-19_1523-14del | ENSP00000437125.1:n.1523-19_1523-14del | |
| ENST00000533540.5:c.1085-19_1085-14del | ENSP00000437189.1:n.1085-19_1085-14del | |
| ENST00000534319.5:c.815-19_815-14del | ENSP00000433316.1:n.815-19_815-14del | |
| ENST00000534624.5:c.1523-19_1523-14del | ENSP00000432083.1:n.1523-19_1523-14del | |
| NM_006597.5:c.1523-19_1523-14del | NP_006588.1:n.1523-19_1523-14del | |
| NM_153201.3:c.1387+264_1387+269del | NP_694881.1:n.1387+264_1387+269del | |
| XM_011542798.1:c.1523-19_1523-14del | XP_011541100.1:n.1523-19_1523-14del | |
| NM_006597.6:c.1523-19_1523-14del MANE Select | NP_006588.1:n.1523-19_1523-14del | |
| NM_153201.4:c.1387+264_1387+269del | NP_694881.1:n.1387+264_1387+269del |