Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814181_127814182dup , CM000671.2:g.127814181_127814182dup | GRCh38 |
| NC_000009.11:g.130576460_130576461dup , CM000671.1:g.130576460_130576461dup | GRCh37 |
| NC_000009.10:g.129616281_129616282dup | NCBI36 |
| NG_009551.1:g.45587_45588dup , LRG_589:g.45587_45588dup | |
| NG_023245.1:g.16307_16308dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-27_710-26dup | |
| XM_005251864.2:c.1484-27_1484-26dup | XP_005251921.1:n.1484-27_1484-26dup |
| XM_005251864.4:c.1484-27_1484-26dup | XP_005251921.1:n.1484-27_1484-26dup |
| XM_017014565.2:c.1334-27_1334-26dup | XP_016870054.1:n.1334-27_1334-26dup |
| XR_242582.2:n.1381-27_1381-26dup | |
| XR_242582.4:n.1379-27_1379-26dup |