Linked Data
dbSNP Id:
rs760851760
gnomAD v2:
9-140093761-TG-T
gnomAD v4:
9-137199309-TG-T
MyVariant Identifiers:
chr9:g.140093762del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199315del , CM000671.2:g.137199315del | GRCh38 |
| NC_000009.11:g.140093767del , CM000671.1:g.140093767del | GRCh37 |
| NC_000009.10:g.139213588del | NCBI36 |
| NG_027801.1:g.6402del | |
| NG_027801.2:g.9884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1402del MANE Select | ENSP00000387100.4:p.Gln468LysfsTer? | |
| ENST00000333046.8:c.796del | ENSP00000327617.4:p.Gln266LysfsTer? | |
| ENST00000409012.4:c.1402del | ENSP00000387100.4:p.Gln468LysfsTer? | |
| ENST00000541945.1:n.90+4794del | ||
| NM_001128228.2:c.1402del | NP_001121700.2:p.Gln468LysfsTer? | |
| NM_001128228.3:c.1402del MANE Select | NP_001121700.2:p.Gln468LysfsTer? |