Linked Data
gnomAD v2:
12-65633805-T-TCATTCAA
MyVariant Identifiers:
chr12:g.65633805_65633806insCATTCAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240025_65240026insCATTCAA , CM000674.2:g.65240025_65240026insCATTCAA | GRCh38 |
| NC_000012.11:g.65633805_65633806insCATTCAA , CM000674.1:g.65633805_65633806insCATTCAA | GRCh37 |
| NC_000012.10:g.63920072_63920073insCATTCAA | NCBI36 |
| NG_016210.1:g.75455_75456insCATTCAA | |
| NG_016210.2:g.75455_75456insCATTCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2018_2019insCATTCAA MANE Select | ENSP00000308369.2:p.Asp675GlnfsTer9 | |
| ENST00000308330.2:c.2018_2019insCATTCAA | ENSP00000308369.2:p.Asp675GlnfsTer9 | |
| NM_001167614.1:c.2015_2016insCATTCAA | NP_001161086.1:p.Asp674GlnfsTer9 | |
| NM_014319.4:c.2018_2019insCATTCAA | NP_055134.2:p.Asp675GlnfsTer9 | |
| NM_014319.5:c.2018_2019insCATTCAA MANE Select | NP_055134.2:p.Asp675GlnfsTer9 | |
| NM_001167614.2:c.2015_2016insCATTCAA | NP_001161086.1:p.Asp674GlnfsTer9 |