Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2718755_2718763dup , CM000671.2:g.2718755_2718763dup | GRCh38 |
| NC_000009.11:g.2718755_2718763dup , CM000671.1:g.2718755_2718763dup | GRCh37 |
| NC_000009.10:g.2708755_2708763dup | NCBI36 |
| NG_012181.1:g.6230_6238dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.1016_1024dup MANE Select | NP_598004.1:p.Val341_Ala342insAspLeuVal |
| ENST00000382082.4:c.1016_1024dup MANE Select | ENSP00000371514.3:p.Val341_Ala342insAspLeuVal |
| NM_133497.3:c.1016_1024dup | NP_598004.1:p.Val341_Ala342insAspLeuVal |
| ENST00000382082.3:c.1016_1024dup | ENSP00000371514.3:p.Val341_Ala342insAspLeuVal |
| XR_929202.1:n.1517_1525dup | |
| XR_929203.1:n.1517_1525dup |