Linked Data
dbSNP Id:
rs1567764796
gnomAD v2:
17-45363755-CTTTG-C
gnomAD v4:
17-47286389-CTTTG-C
MyVariant Identifiers:
chr17:g.45363756_45363759del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286390_47286393del , CM000679.2:g.47286390_47286393del | GRCh38 |
| NC_000017.10:g.45363756_45363759del , CM000679.1:g.45363756_45363759del | GRCh37 |
| NC_000017.9:g.42718755_42718758del | NCBI36 |
| NG_008332.2:g.37549_37552del , LRG_481:g.37549_37552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.745_748del | ENSP00000513002.1:p.Phe249MetfsTer? | |
| ENST00000559488.7:c.745_748del MANE Select | ENSP00000452786.2:p.Phe249MetfsTer? | |
| ENST00000559488.5:c.745_748del | ENSP00000452786.1:p.Phe249MetfsTer? | |
| ENST00000560629.1:c.710_713del | ||
| ENST00000571680.1:c.745_748del | ENSP00000461626.1:p.Phe249MetfsTer? | |
| NM_000212.2:c.745_748del , LRG_481t1:c.745_748del | NP_000203.2:p.Phe249MetfsTer? | |
| NM_000212.3:c.745_748del MANE Select | NP_000203.2:p.Phe249MetfsTer? |