Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945965_128945970dup , CM000671.2:g.128945965_128945970dup | GRCh38 |
| NC_000009.11:g.131708244_131708249dup , CM000671.1:g.131708244_131708249dup | GRCh37 |
| NC_000009.10:g.130748065_130748070dup | NCBI36 |
| NG_017009.1:g.6767_6772dup , LRG_744:g.6767_6772dup | |
| NG_033111.1:g.3273_3278dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1337_1342dup MANE Select | ENSP00000361667.3:p.Val447_Gly448insAlaVal | |
| ENST00000372586.3:c.1337_1342dup | ENSP00000361667.3:p.Val447_Gly448insAlaVal | |
| ENST00000482796.1:c.39-3224_39-3219dup | ENSP00000417556.2:n.39-3224_39-3219dup | |
| NM_014908.3:c.1337_1342dup , LRG_744t1:c.1337_1342dup | NP_055723.1:p.Val447_Gly448insAlaVal | |
| NM_014908.4:c.1337_1342dup MANE Select | NP_055723.1:p.Val447_Gly448insAlaVal |