Linked Data
dbSNP Id:
rs766035099
gnomAD v2:
6-137193234-CAACTT-C
gnomAD v3:
6-136872096-CAACTT-C
gnomAD v4:
6-136872096-CAACTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872099_136872103del , CM000668.2:g.136872099_136872103del | GRCh38 |
| NC_000006.11:g.137193237_137193241del , CM000668.1:g.137193237_137193241del | GRCh37 |
| NC_000006.10:g.137234930_137234934del | NCBI36 |
| NG_008462.1:g.54520_54524del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.748-99_748-95del MANE Select | ENSP00000315680.3:n.748-99_748-95del | |
| ENST00000541292.6:c.*13-99_*13-95del | ENSP00000441004.1:n.*13-99_*13-95del | |
| ENST00000678002.1:c.436-99_436-95del | ||
| ENST00000678557.1:c.634-99_634-95del | ENSP00000502962.1:n.634-99_634-95del | |
| ENST00000678593.1:c.753-99_753-95del | ENSP00000503841.1:n.753-99_753-95del | |
| ENST00000679286.1:c.628-99_628-95del | ENSP00000503168.1:n.628-99_628-95del | |
| ENST00000318471.4:c.748-99_748-95del | ENSP00000315680.3:n.748-99_748-95del | |
| NM_000288.3:c.748-99_748-95del | NP_000279.1:n.748-99_748-95del | |
| XM_005267019.3:c.634-99_634-95del | XP_005267076.1:n.634-99_634-95del | |
| XM_006715502.1:c.454-99_454-95del | XP_006715565.1:n.454-99_454-95del | |
| XM_011535900.1:c.526+25918_526+25922del | XP_011534202.1:n.526+25918_526+25922del | |
| XM_005267019.4:c.634-99_634-95del | XP_005267076.1:n.634-99_634-95del | |
| XM_006715502.2:c.454-99_454-95del | XP_006715565.1:n.454-99_454-95del | |
| XM_017010934.2:c.526+25918_526+25922del | XP_016866423.1:n.526+25918_526+25922del | |
| NM_000288.4:c.748-99_748-95del MANE Select | NP_000279.1:n.748-99_748-95del |