Linked Data
ClinVar Variation Id:
292933
dbSNP Id:
rs1553221961
gnomAD v2:
1-158580956-C-CACACAT
gnomAD v3:
1-158611166-C-CACACAT
gnomAD v4:
1-158611166-C-CACACAT
MyVariant Identifiers:
chr1:g.158580956_158580957insACACAT (hg19)
chr1:g.158611166_158611167insACACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158611166_158611167insACACAT , CM000663.2:g.158611166_158611167insACACAT | GRCh38 |
| NC_000001.10:g.158580956_158580957insACACAT , CM000663.1:g.158580956_158580957insACACAT | GRCh37 |
| NC_000001.9:g.156847580_156847581insACACAT | NCBI36 |
| NG_011474.1:g.80550_80551insATGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641002.1:c.*3786_*3787insACACAT (OR10Z1) MANE Select | ENSP00000493003.1:n.*3786_*3787insACACAT | |
| ENST00000643759.2:c.*97_*98insATGTGT (SPTA1) MANE Select | ENSP00000495214.1:n.*97_*98insATGTGT | |
| ENST00000368147.8:c.*97_*98insATGTGT (SPTA1) | ENSP00000357129.4:n.*97_*98insATGTGT | |
| ENST00000614909.4:c.*63_*64insATGTGT (SPTA1) | ENSP00000482595.1:n.*63_*64insATGTGT | |
| NM_003126.2:c.*97_*98insATGTGT (SPTA1) | NP_003117.2:n.*97_*98insATGTGT | |
| XM_011509916.1:c.*97_*98insATGTGT (SPTA1) | XP_011508218.1:n.*97_*98insATGTGT | |
| XM_011509917.1:c.*97_*98insATGTGT (SPTA1) | XP_011508219.1:n.*97_*98insATGTGT | |
| NM_003126.3:c.*97_*98insATGTGT (SPTA1) | NP_003117.2:n.*97_*98insATGTGT | |
| XM_011509916.2:c.*97_*98insATGTGT (SPTA1) | XP_011508218.1:n.*97_*98insATGTGT | |
| XM_011509917.3:c.*97_*98insATGTGT (SPTA1) | XP_011508219.1:n.*97_*98insATGTGT | |
| NM_003126.4:c.*97_*98insATGTGT (SPTA1) MANE Select | NP_003117.2:n.*97_*98insATGTGT | |
| NM_001004478.2:c.*3786_*3787insACACAT (OR10Z1) MANE Select | NP_001004478.1:n.*3786_*3787insACACAT |