Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127814184_127814185delinsTC , CM000671.2:g.127814184_127814185delinsTC | GRCh38 |
| NC_000009.11:g.130576463_130576464delinsTC , CM000671.1:g.130576463_130576464delinsTC | GRCh37 |
| NC_000009.10:g.129616284_129616285delinsTC | NCBI36 |
| NG_009551.1:g.45584_45585delinsGA , LRG_589:g.45584_45585delinsGA | |
| NG_023245.1:g.16310_16311delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000467826.5:n.710-24_710-23delinsTC | |
| XM_005251864.2:c.1484-24_1484-23delinsTC | XP_005251921.1:n.1484-24_1484-23delinsTC |
| XM_005251864.4:c.1484-24_1484-23delinsTC | XP_005251921.1:n.1484-24_1484-23delinsTC |
| XM_017014565.2:c.1334-24_1334-23delinsTC | XP_016870054.1:n.1334-24_1334-23delinsTC |
| XR_242582.2:n.1381-24_1381-23delinsTC | |
| XR_242582.4:n.1379-24_1379-23delinsTC |