Linked Data
ClinVar Variation Id:
100415
ClinVar RCV Id:
RCV000086825
dbSNP Id:
rs61750599
MyVariant Identifiers:
chr12:g.6127560_6127561delinsTA (hg19)
chr12:g.6018394_6018395delinsTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018394_6018395delinsTA , CM000674.2:g.6018394_6018395delinsTA | GRCh38 |
| NC_000012.11:g.6127560_6127561delinsTA , CM000674.1:g.6127560_6127561delinsTA | GRCh37 |
| NC_000012.10:g.5997821_5997822delinsTA | NCBI36 |
| NG_009072.1:g.111276_111277delinsTA | |
| NG_009072.2:g.111276_111277delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5023_5024delinsTA MANE Select | ENSP00000261405.5:p.Leu1675Ter | |
| ENST00000261405.9:c.5023_5024delinsTA | ENSP00000261405.5:p.Leu1675Ter | |
| ENST00000538635.5:n.421-24461_421-24460delinsTA | ||
| NM_000552.3:c.5023_5024delinsTA | NP_000543.2:p.Leu1675Ter | |
| NM_000552.4:c.5023_5024delinsTA | NP_000543.2:p.Leu1675Ter | |
| NM_000552.5:c.5023_5024delinsTA MANE Select | NP_000543.3:p.Leu1675Ter |