Linked Data
ClinVar Variation Id:
316440
ClinVar RCV Id:
RCV000302208
dbSNP Id:
rs886051269
gnomAD v3:
15-51208162-T-TG
gnomAD v4:
15-51208162-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51208165dup , CM000677.2:g.51208165dup | GRCh38 |
| NC_000015.9:g.51500362dup , CM000677.1:g.51500362dup | GRCh37 |
| NC_000015.8:g.49287654dup | NCBI36 |
| NG_007982.1:g.135436dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.*2645dup (CYP19A1) MANE Select | ENSP00000379683.1:n.*2645dup | |
| ENST00000260433.6:c.*2645dup (CYP19A1) | ENSP00000260433.2:n.*2645dup | |
| ENST00000396402.5:c.*2645dup (CYP19A1) | ENSP00000379683.1:n.*2645dup | |
| NM_000103.3:c.*2645dup (CYP19A1) | NP_000094.2:n.*2645dup | |
| NM_031226.2:c.*2645dup (CYP19A1) | NP_112503.1:n.*2645dup | |
| XR_932222.1:n.99-69818dup (PIRC66) | ||
| NM_001347248.1:c.*2645dup (CYP19A1) | NP_001334177.1:n.*2645dup | |
| NM_001347249.1:c.*2645dup (CYP19A1) | NP_001334178.1:n.*2645dup | |
| NM_001347250.1:c.*2645dup (CYP19A1) | NP_001334179.1:n.*2645dup | |
| NM_001347251.1:c.*2645dup (CYP19A1) | NP_001334180.1:n.*2645dup | |
| NM_001347252.1:c.*2645dup (CYP19A1) | NP_001334181.1:n.*2645dup | |
| NM_001347253.1:c.*2645dup (CYP19A1) | NP_001334182.1:n.*2645dup | |
| NM_001347254.1:c.*2645dup (CYP19A1) | NP_001334183.1:n.*2645dup | |
| NM_001347255.1:c.*2645dup (CYP19A1) | NP_001334184.1:n.*2645dup | |
| NM_001347256.1:c.*2645dup (CYP19A1) | NP_001334185.1:n.*2645dup | |
| NR_146310.1:n.195-69818dup (MIR4713HG) | ||
| NM_000103.4:c.*2645dup (CYP19A1) MANE Select | NP_000094.2:n.*2645dup | |
| NM_001347249.2:c.*2645dup (CYP19A1) | NP_001334178.1:n.*2645dup | |
| NM_001347255.2:c.*2645dup (CYP19A1) | NP_001334184.1:n.*2645dup | |
| NM_001347256.2:c.*2645dup (CYP19A1) | NP_001334185.1:n.*2645dup | |
| NM_031226.3:c.*2645dup (CYP19A1) | NP_112503.1:n.*2645dup | |
| NM_001347250.2:c.*2645dup (CYP19A1) | NP_001334179.1:n.*2645dup | |
| NM_001347251.2:c.*2645dup (CYP19A1) | NP_001334180.1:n.*2645dup | |
| NM_001347252.2:c.*2645dup (CYP19A1) | NP_001334181.1:n.*2645dup | |
| NM_001347253.2:c.*2645dup (CYP19A1) | NP_001334182.1:n.*2645dup | |
| NM_001347254.2:c.*2645dup (CYP19A1) | NP_001334183.1:n.*2645dup |