Linked Data
dbSNP Id:
rs1440165865
gnomAD v2:
6-137193319-TC-T
gnomAD v3:
6-136872181-TC-T
gnomAD v4:
6-136872181-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872182del , CM000668.2:g.136872182del | GRCh38 |
| NC_000006.11:g.137193320del , CM000668.1:g.137193320del | GRCh37 |
| NC_000006.10:g.137235013del | NCBI36 |
| NG_008462.1:g.54603del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.748-16del MANE Select | ENSP00000315680.3:n.748-16del | |
| ENST00000541292.6:c.*13-16del | ENSP00000441004.1:n.*13-16del | |
| ENST00000678002.1:c.436-16del | ||
| ENST00000678557.1:c.634-16del | ENSP00000502962.1:n.634-16del | |
| ENST00000678593.1:c.753-16del | ENSP00000503841.1:n.753-16del | |
| ENST00000679286.1:c.628-16del | ENSP00000503168.1:n.628-16del | |
| ENST00000318471.4:c.748-16del | ENSP00000315680.3:n.748-16del | |
| NM_000288.3:c.748-16del | NP_000279.1:n.748-16del | |
| XM_005267019.3:c.634-16del | XP_005267076.1:n.634-16del | |
| XM_006715502.1:c.454-16del | XP_006715565.1:n.454-16del | |
| XM_011535900.1:c.527-25960del | XP_011534202.1:n.527-25960del | |
| XM_005267019.4:c.634-16del | XP_005267076.1:n.634-16del | |
| XM_006715502.2:c.454-16del | XP_006715565.1:n.454-16del | |
| XM_017010934.2:c.527-25960del | XP_016866423.1:n.527-25960del | |
| NM_000288.4:c.748-16del MANE Select | NP_000279.1:n.748-16del |