Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175310_70175321del , CM000679.2:g.70175310_70175321del | GRCh38 |
| NC_000017.10:g.68171451_68171462del , CM000679.1:g.68171451_68171462del | GRCh37 |
| NC_000017.9:g.65683046_65683057del | NCBI36 |
| NG_008798.1:g.10776_10787del , LRG_328:g.10776_10787del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.271_282del MANE Select | ENSP00000243457.2:p.Ala91_Leu94del | |
| ENST00000243457.3:c.271_282del | ENSP00000243457.2:p.Ala91_Leu94del | |
| ENST00000535240.1:c.271_282del | ENSP00000441848.1:p.Ala91_Leu94del | |
| NM_000891.2:c.271_282del , LRG_328t1:c.271_282del | NP_000882.1:p.Ala91_Leu94del | |
| XM_011524779.1:c.271_282del | XP_011523081.1:p.Ala91_Leu94del | |
| NM_000891.3:c.271_282del MANE Select | NP_000882.1:p.Ala91_Leu94del |