Linked Data
gnomAD v2:
12-65633805-T-TCATTCAATAA
MyVariant Identifiers:
chr12:g.65633805_65633806insCATTCAATAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240025_65240026insCATTCAATAA , CM000674.2:g.65240025_65240026insCATTCAATAA | GRCh38 |
| NC_000012.11:g.65633805_65633806insCATTCAATAA , CM000674.1:g.65633805_65633806insCATTCAATAA | GRCh37 |
| NC_000012.10:g.63920072_63920073insCATTCAATAA | NCBI36 |
| NG_016210.1:g.75455_75456insCATTCAATAA | |
| NG_016210.2:g.75455_75456insCATTCAATAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2018_2019insCATTCAATAA MANE Select | ENSP00000308369.2:p.Asp675GlnfsTer2 | |
| ENST00000308330.2:c.2018_2019insCATTCAATAA | ENSP00000308369.2:p.Asp675GlnfsTer2 | |
| NM_001167614.1:c.2015_2016insCATTCAATAA | NP_001161086.1:p.Asp674GlnfsTer2 | |
| NM_014319.4:c.2018_2019insCATTCAATAA | NP_055134.2:p.Asp675GlnfsTer2 | |
| NM_014319.5:c.2018_2019insCATTCAATAA MANE Select | NP_055134.2:p.Asp675GlnfsTer2 | |
| NM_001167614.2:c.2015_2016insCATTCAATAA | NP_001161086.1:p.Asp674GlnfsTer2 |