Linked Data
dbSNP Id:
rs771171822
ExAC:
6:137193333 TAG / T
gnomAD v2:
6-137193333-TAG-T
gnomAD v3:
6-136872195-TAG-T
gnomAD v4:
6-136872195-TAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872196_136872197del , CM000668.2:g.136872196_136872197del | GRCh38 |
| NC_000006.11:g.137193334_137193335del , CM000668.1:g.137193334_137193335del | GRCh37 |
| NC_000006.10:g.137235027_137235028del | NCBI36 |
| NG_008462.1:g.54617_54618del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.748-2_748-1del MANE Select | ENSP00000315680.3:n.748-2_748-1del | |
| ENST00000541292.6:c.*13-2_*13-1del | ENSP00000441004.1:n.*13-2_*13-1del | |
| ENST00000678002.1:c.436-2_436-1del | ||
| ENST00000678557.1:c.634-2_634-1del | ENSP00000502962.1:n.634-2_634-1del | |
| ENST00000678593.1:c.753-2_753-1del | ENSP00000503841.1:n.753-2_753-1del | |
| ENST00000679286.1:c.628-2_628-1del | ENSP00000503168.1:n.628-2_628-1del | |
| ENST00000318471.4:c.748-2_748-1del | ENSP00000315680.3:n.748-2_748-1del | |
| NM_000288.3:c.748-2_748-1del | NP_000279.1:n.748-2_748-1del | |
| XM_005267019.3:c.634-2_634-1del | XP_005267076.1:n.634-2_634-1del | |
| XM_006715502.1:c.454-2_454-1del | XP_006715565.1:n.454-2_454-1del | |
| XM_011535900.1:c.527-25946_527-25945del | XP_011534202.1:n.527-25946_527-25945del | |
| XM_005267019.4:c.634-2_634-1del | XP_005267076.1:n.634-2_634-1del | |
| XM_006715502.2:c.454-2_454-1del | XP_006715565.1:n.454-2_454-1del | |
| XM_017010934.2:c.527-25946_527-25945del | XP_016866423.1:n.527-25946_527-25945del | |
| NM_000288.4:c.748-2_748-1del MANE Select | NP_000279.1:n.748-2_748-1del |