Linked Data
gnomAD v2:
16-67974091-GGGGCGTGGGCA-G
gnomAD v4:
16-67940188-GGGGCGTGGGCA-G
MyVariant Identifiers:
chr16:g.67974092_67974102del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940191_67940201del , CM000678.2:g.67940191_67940201del | GRCh38 |
| NC_000016.9:g.67974094_67974104del , CM000678.1:g.67974094_67974104del | GRCh37 |
| NC_000016.8:g.66531595_66531605del | NCBI36 |
| NG_009778.1:g.8914_8924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1028_1038del MANE Select | ENSP00000264005.5:p.Leu343ProfsTer20 | |
| ENST00000264005.9:c.1028_1038del | ENSP00000264005.5:p.Leu343ProfsTer20 | |
| ENST00000570369.5:c.156-125_156-115del | ||
| ENST00000573538.5:c.766_776del | ENSP00000463220.1:n.766_776del | |
| NM_000229.1:c.1028_1038del | NP_000220.1:p.Leu343ProfsTer20 | |
| NM_000229.2:c.1028_1038del MANE Select | NP_000220.1:p.Leu343ProfsTer20 |