Linked Data
dbSNP Id:
rs111033662
gnomAD v2:
9-34647220-CCT-C
gnomAD v4:
9-34647223-CCT-C
MyVariant Identifiers:
chr9:g.34647223_34647224del (hg19)
chr9:g.34647221_34647222del (hg19)
chr9:g.34647226_34647227del (hg38)
chr9:g.34647224_34647225del (hg38)
PubMed:
PMID:25592817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647226_34647227del , CM000671.2:g.34647226_34647227del | GRCh38 |
| NC_000009.11:g.34647223_34647224del , CM000671.1:g.34647223_34647224del | GRCh37 |
| NC_000009.10:g.34637223_34637224del | NCBI36 |
| NG_009029.1:g.5589_5590del | |
| NG_028966.1:g.42_43del | |
| NG_009029.2:g.5638_5639del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.220_221del | ENSP00000509954.1:p.Leu74ValfsTer17 | |
| ENST00000378842.8:c.220_221del MANE Select | ENSP00000368119.4:p.Leu74ValfsTer17 | |
| ENST00000378842.7:c.220_221del | ENSP00000368119.3:p.Leu74ValfsTer17 | |
| ENST00000450095.6:c.18_19del | ENSP00000401956.2:p.Val8ProfsTer10 | |
| ENST00000465543.6:n.559_560del | ||
| ENST00000468099.2:n.260_261del | ||
| ENST00000472111.5:n.261_262del | ||
| ENST00000473506.6:c.220_221del | ENSP00000432839.2:p.Leu74ValfsTer? | |
| ENST00000473529.5:n.267_268del | ||
| ENST00000485531.1:n.213_214del | ||
| ENST00000487381.5:n.246_247del | ||
| ENST00000489643.6:n.250_251del | ||
| ENST00000554085.5:c.220_221del | ENSP00000450419.1:p.Leu74ValfsTer16 | |
| ENST00000554139.5:n.273_274del | ||
| ENST00000554330.5:n.217_218del | ||
| ENST00000554550.5:c.220_221del | ENSP00000451435.1:p.Leu74ValfsTer22 | |
| ENST00000554638.5:n.244_245del | ||
| ENST00000554897.5:c.220_221del | ENSP00000450942.1:p.Leu74ValfsTer22 | |
| ENST00000554944.5:n.250_251del | ||
| ENST00000555020.5:n.250_251del | ||
| ENST00000555086.5:n.224_225del | ||
| ENST00000555214.5:n.229_230del | ||
| ENST00000556157.1:n.327_328del | ||
| ENST00000556244.1:c.104_105del | ||
| ENST00000556278.1:c.220_221del | ENSP00000451792.1:p.Leu74ValfsTer13 | |
| ENST00000556403.5:n.233_234del | ||
| ENST00000556494.5:n.252_253del | ||
| ENST00000557541.5:n.413_414del | ||
| ENST00000557706.5:n.334_335del | ||
| NM_000155.3:c.220_221del | NP_000146.2:p.Leu74ValfsTer17 | |
| NM_001258332.1:c.18_19del | NP_001245261.1:p.Val8ProfsTer10 | |
| NM_000155.4:c.220_221del MANE Select | NP_000146.2:p.Leu74ValfsTer17 | |
| NM_001258332.2:c.18_19del | NP_001245261.1:p.Val8ProfsTer10 |