Linked Data
dbSNP Id:
rs748344240
ExAC:
16:1634214 TCACC / T
gnomAD v2:
16-1634214-TCACC-T
gnomAD v3:
16-1584213-TCACC-T
gnomAD v4:
16-1584213-TCACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1584214_1584217del , CM000678.2:g.1584214_1584217del | GRCh38 |
| NC_000016.9:g.1634215_1634218del , CM000678.1:g.1634215_1634218del | GRCh37 |
| NC_000016.8:g.1574216_1574219del | NCBI36 |
| NG_032783.1:g.32892_32895del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.1359_1359+3del | ||
| ENST00000397417.6:c.532_532+3del | ||
| ENST00000426508.6:c.1359_1359+3del | ||
| ENST00000439987.6:n.1420_1420+3del | ||
| ENST00000565298.5:n.47_47+3del | ||
| NM_014714.3:c.1359_1359+3del | ||
| XM_005255725.3:c.1359_1359+3del | ||
| XM_005255726.2:c.1359_1359+3del | ||
| XM_006720989.2:c.1359_1359+3del | ||
| XM_006720990.2:c.1359_1359+3del | ||
| XM_006720991.2:c.1359_1359+3del | ||
| XM_011522766.1:c.1359_1359+3del | ||
| XM_011522767.1:c.384_384+3del | ||
| XM_011522768.1:c.1359_1359+3del | ||
| XM_011522769.1:c.1359_1359+3del | ||
| XM_011522771.1:c.1359_1359+3del | ||
| XM_011522772.1:c.1359_1359+3del | ||
| NR_135176.1:n.59+3629_59+3632del | ||
| XM_005255725.5:c.1359_1359+3del | ||
| XM_005255726.4:c.1359_1359+3del | ||
| XM_006720990.3:c.1359_1359+3del | ||
| XM_006720991.3:c.1359_1359+3del | ||
| XM_011522766.3:c.1359_1359+3del | ||
| XM_011522767.2:c.384_384+3del | ||
| XM_011522769.3:c.1359_1359+3del | ||
| XM_011522771.3:c.1359_1359+3del | ||
| XM_011522772.3:c.1359_1359+3del | ||
| XM_017023910.1:c.1359_1359+3del | ||
| XM_017023911.1:c.-339_-339+3del | ||
| NM_014714.4:c.1359_1359+3del |