Linked Data
dbSNP Id:
rs770278140
ExAC:
10:104592289 T / TG
gnomAD v2:
10-104592289-T-TG
gnomAD v4:
10-102832532-T-TG
MyVariant Identifiers:
chr10:g.104592289_104592290insG (hg19)
chr10:g.102832532_102832533insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832537dup , CM000672.2:g.102832537dup | GRCh38 |
| NC_000010.10:g.104592294dup , CM000672.1:g.104592294dup | GRCh37 |
| NC_000010.9:g.104582284dup | NCBI36 |
| NG_007955.1:g.10001dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1117dup (CYP17A1) MANE Select | ENSP00000358903.3:p.His373ProfsTer6 | |
| ENST00000638190.1:c.814dup (CYP17A1) | ENSP00000492539.1:p.His272ProfsTer6 | |
| ENST00000638272.1:c.661dup (CYP17A1) | ENSP00000491508.1:p.His221ProfsTer6 | |
| ENST00000638971.1:c.1030dup (CYP17A1) | ENSP00000492313.1:p.His344ProfsTer6 | |
| ENST00000639393.1:c.1117dup (CYP17A1) | ENSP00000492651.1:p.His373ProfsTer6 | |
| ENST00000640633.1:n.879dup (CYP17A1) | ||
| ENST00000647664.1:c.*1568dup (WBP1L) | ENSP00000498131.1:n.*1568dup | |
| ENST00000369887.3:c.1117dup (CYP17A1) | ENSP00000358903.3:p.His373ProfsTer6 | |
| NM_000102.3:c.1117dup (CYP17A1) | NP_000093.1:p.His373ProfsTer6 | |
| NM_000102.4:c.1117dup (CYP17A1) MANE Select | NP_000093.1:p.His373ProfsTer6 |