Linked Data
dbSNP Id:
rs754670771
ExAC:
16:5078882 AGTGAT / A
gnomAD v2:
16-5078882-AGTGAT-A
gnomAD v3:
16-5028881-AGTGAT-A
gnomAD v4:
16-5028881-AGTGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028882_5028886del , CM000678.2:g.5028882_5028886del | GRCh38 |
| NC_000016.9:g.5078883_5078887del , CM000678.1:g.5078883_5078887del | GRCh37 |
| NC_000016.8:g.5018884_5018888del | NCBI36 |
| NG_028152.1:g.10056_10060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.914_918del MANE Select | ENSP00000310998.3:p.Asp305ValfsTer27 | |
| ENST00000649828.1:c.914_918del | ENSP00000498032.1:p.Asp305ValfsTer29 | |
| ENST00000312251.7:c.914_918del | ENSP00000310998.3:p.Asp305ValfsTer27 | |
| ENST00000381955.7:c.914_918del | ENSP00000371381.3:p.Asp305ValfsTer27 | |
| ENST00000562346.2:c.505-701_505-697del | ||
| ENST00000562746.5:c.914_918del | ENSP00000455900.1:p.Asp305ValfsTer29 | |
| ENST00000563578.5:c.732_736del | ||
| ENST00000564397.5:n.1273_1277del | ||
| ENST00000565876.5:c.480+1499_481-1503del | ||
| ENST00000567739.5:n.233_237del | ||
| ENST00000568202.5:n.777_781del | ||
| ENST00000569296.5:c.458_462del | ENSP00000465949.1:p.Asp153ValfsTer18 | |
| NM_016256.3:c.914_918del | NP_057340.2:p.Asp305ValfsTer27 | |
| XM_011522517.1:c.914_918del | XP_011520819.1:p.Asp305ValfsTer27 | |
| XM_011522518.1:c.914_918del | XP_011520820.1:p.Asp305ValfsTer18 | |
| XM_011522519.1:c.914_918del | XP_011520821.1:p.Asp305ValfsTer29 | |
| XR_243285.1:n.941_945del | ||
| XM_011522517.3:c.914_918del | XP_011520819.1:p.Asp305ValfsTer27 | |
| XR_001751908.2:n.940_944del | ||
| XR_001751909.2:n.940_944del | ||
| XR_001751910.2:n.940_944del | ||
| XR_001751911.2:n.940_944del | ||
| XR_001751912.2:n.940_944del | ||
| NM_016256.4:c.914_918del MANE Select | NP_057340.2:p.Asp305ValfsTer27 |