Linked Data
dbSNP Id:
rs755401998
ExAC:
15:40914013 AATG / A
gnomAD v2:
15-40914013-AATG-A
gnomAD v4:
15-40621815-AATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621819_40621821del , CM000677.2:g.40621819_40621821del | GRCh38 |
| NC_000015.9:g.40914017_40914019del , CM000677.1:g.40914017_40914019del | GRCh37 |
| NC_000015.8:g.38701309_38701311del | NCBI36 |
| NG_033114.1:g.32571_32573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1555_1557del MANE Select | ENSP00000382576.3:p.Met519del | |
| ENST00000346991.9:c.1633_1635del | ENSP00000335463.6:p.Met545del | |
| ENST00000399668.6:c.1555_1557del | ENSP00000382576.2:p.Met519del | |
| ENST00000527044.5:c.1555_1557del | ENSP00000432654.2:p.Met519del | |
| ENST00000533001.1:n.1700_1702del | ||
| ENST00000534204.1:c.116-7505_116-7503del | ENSP00000453857.1:n.116-7505_116-7503del | |
| ENST00000614337.4:n.1871_1873del | ||
| NM_144508.4:c.1555_1557del | NP_653091.3:p.Met519del | |
| NM_170589.4:c.1633_1635del | NP_733468.3:p.Met545del | |
| XM_011521816.1:c.1231_1233del | XP_011520118.1:p.Met411del | |
| XM_011521817.1:c.1555_1557del | XP_011520119.1:p.Met519del | |
| XM_017022432.1:c.1231_1233del | XP_016877921.1:p.Met411del | |
| NM_144508.5:c.1555_1557del MANE Select | NP_653091.3:p.Met519del | |
| NM_170589.5:c.1633_1635del | NP_733468.3:p.Met545del |