Linked Data
ClinVar Variation Id:
292932
dbSNP Id:
rs55832242
gnomAD v3:
1-158611131-GCACACA-G
gnomAD v4:
1-158611131-GCACACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158611161_158611166del , CM000663.2:g.158611161_158611166del | GRCh38 |
| NC_000001.10:g.158580951_158580956del , CM000663.1:g.158580951_158580956del | GRCh37 |
| NC_000001.9:g.156847575_156847580del | NCBI36 |
| NG_011474.1:g.80580_80585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641002.1:c.*3781_*3786del (OR10Z1) MANE Select | ENSP00000493003.1:n.*3781_*3786del | |
| ENST00000643759.2:c.*127_*132del (SPTA1) MANE Select | ENSP00000495214.1:n.*127_*132del | |
| ENST00000368147.8:c.*127_*132del (SPTA1) | ENSP00000357129.4:n.*127_*132del | |
| ENST00000614909.4:c.*93_*98del (SPTA1) | ENSP00000482595.1:n.*93_*98del | |
| NM_003126.2:c.*127_*132del (SPTA1) | NP_003117.2:n.*127_*132del | |
| XM_011509916.1:c.*127_*132del (SPTA1) | XP_011508218.1:n.*127_*132del | |
| XM_011509917.1:c.*127_*132del (SPTA1) | XP_011508219.1:n.*127_*132del | |
| NM_003126.3:c.*127_*132del (SPTA1) | NP_003117.2:n.*127_*132del | |
| XM_011509916.2:c.*127_*132del (SPTA1) | XP_011508218.1:n.*127_*132del | |
| XM_011509917.3:c.*127_*132del (SPTA1) | XP_011508219.1:n.*127_*132del | |
| NM_003126.4:c.*127_*132del (SPTA1) MANE Select | NP_003117.2:n.*127_*132del | |
| NM_001004478.2:c.*3781_*3786del (OR10Z1) MANE Select | NP_001004478.1:n.*3781_*3786del |