Linked Data
dbSNP Id:
rs774842972
ExAC:
5:149357906 GT / G
gnomAD v2:
5-149357906-GT-G
MyVariant Identifiers:
chr5:g.149357907del (hg19)
chr5:g.149978345del (hg38)
chr5:g.149978344del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978346del , CM000667.2:g.149978346del | GRCh38 |
| NC_000005.9:g.149357909del , CM000667.1:g.149357909del | GRCh37 |
| NC_000005.8:g.149338102del | NCBI36 |
| NG_007147.2:g.19464del , LRG_684:g.19464del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.926del | ||
| ENST00000286298.5:c.694del MANE Select | ENSP00000286298.4:p.Tyr232IlefsTer3 | |
| ENST00000286298.4:c.694del | ENSP00000286298.4:p.Tyr232IlefsTer3 | |
| ENST00000503336.1:c.367del | ENSP00000426053.1:p.Tyr123IlefsTer? | |
| NM_000112.3:c.694del , LRG_684t1:c.694del | NP_000103.2:p.Tyr232IlefsTer3 | |
| XM_017009191.2:c.694del | XP_016864680.1:p.Tyr232IlefsTer3 | |
| NM_000112.4:c.694del MANE Select | NP_000103.2:p.Tyr232IlefsTer3 |