Linked Data
dbSNP Id:
rs373023744
ExAC:
6:137193309 GT / G
gnomAD v2:
6-137193309-GT-G
gnomAD v3:
6-136872171-GT-G
gnomAD v4:
6-136872171-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872181del , CM000668.2:g.136872181del | GRCh38 |
| NC_000006.11:g.137193319del , CM000668.1:g.137193319del | GRCh37 |
| NC_000006.10:g.137235012del | NCBI36 |
| NG_008462.1:g.54602del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.748-17del MANE Select | ENSP00000315680.3:n.748-17del | |
| ENST00000541292.6:c.*13-17del | ENSP00000441004.1:n.*13-17del | |
| ENST00000678002.1:c.436-17del | ||
| ENST00000678557.1:c.634-17del | ENSP00000502962.1:n.634-17del | |
| ENST00000678593.1:c.753-17del | ENSP00000503841.1:n.753-17del | |
| ENST00000679286.1:c.628-17del | ENSP00000503168.1:n.628-17del | |
| ENST00000318471.4:c.748-17del | ENSP00000315680.3:n.748-17del | |
| NM_000288.3:c.748-17del | NP_000279.1:n.748-17del | |
| XM_005267019.3:c.634-17del | XP_005267076.1:n.634-17del | |
| XM_006715502.1:c.454-17del | XP_006715565.1:n.454-17del | |
| XM_011535900.1:c.527-25961del | XP_011534202.1:n.527-25961del | |
| XM_005267019.4:c.634-17del | XP_005267076.1:n.634-17del | |
| XM_006715502.2:c.454-17del | XP_006715565.1:n.454-17del | |
| XM_017010934.2:c.527-25961del | XP_016866423.1:n.527-25961del | |
| NM_000288.4:c.748-17del MANE Select | NP_000279.1:n.748-17del |