Linked Data
ClinVar Variation Id:
1072367
ClinVar RCV Id:
RCV001385056
dbSNP Id:
rs2140288751
MyVariant Identifiers:
chr15:g.72103892_72103901del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811553_71811562del , CM000677.2:g.71811553_71811562del | GRCh38 |
| NC_000015.9:g.72103893_72103902del , CM000677.1:g.72103893_72103902del | GRCh37 |
| NC_000015.8:g.69890947_69890956del | NCBI36 |
| NG_009113.2:g.5999_6008del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.189_198del MANE Select | ENSP00000482504.1:p.Cys64AlafsTer? | |
| ENST00000617575.4:c.189_198del | ENSP00000482504.1:p.Cys64AlafsTer? | |
| ENST00000621098.1:c.189_198del | ENSP00000479962.1:p.Cys64AlafsTer? | |
| ENST00000621736.4:c.-76_-67del | ENSP00000479254.1:n.-76_-67del | |
| NM_014249.3:c.189_198del | NP_055064.1:p.Cys64AlafsTer? | |
| NM_016346.3:c.189_198del | NP_057430.1:p.Cys64AlafsTer? | |
| XM_011521146.1:c.-76_-67del | XP_011519448.1:n.-76_-67del | |
| NM_014249.4:c.189_198del MANE Select | NP_055064.1:p.Cys64AlafsTer? | |
| NM_016346.4:c.189_198del | NP_057430.1:p.Cys64AlafsTer? |