Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160123330_160123331dup , CM000663.2:g.160123330_160123331dup | GRCh38 |
| NC_000001.10:g.160093120_160093121dup , CM000663.1:g.160093120_160093121dup | GRCh37 |
| NC_000001.9:g.158359744_158359745dup | NCBI36 |
| NG_008014.1:g.12573_12574dup , LRG_6:g.12573_12574dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.295_296dup MANE Select | NP_000693.1:p.Ile100ProfsTer? |
| ENST00000361216.8:c.295_296dup MANE Select | ENSP00000354490.3:p.Ile100ProfsTer? |
| NM_000702.3:c.295_296dup | NP_000693.1:p.Ile100ProfsTer? |
| ENST00000361216.7:c.295_296dup | ENSP00000354490.3:p.Ile100ProfsTer? |
| ENST00000392233.7:c.295_296dup | ENSP00000376066.3:p.Ile100ProfsTer? |
| ENST00000472488.5:n.398_399dup |