Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152354993_152355223del , CM000663.2:g.152354993_152355223del | GRCh38 |
| NC_000001.10:g.152327469_152327699del , CM000663.1:g.152327469_152327699del | GRCh37 |
| NC_000001.9:g.150594093_150594323del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388718.5:c.2595_2825del MANE Select | ENSP00000373370.4:p.Gly866_Ser942del | |
| NM_001014342.2:c.2595_2825del | NP_001014364.1:p.Gly866_Ser942del | |
| NR_103778.1:n.1407-8994_1407-8764del | ||
| NR_103779.1:n.152-8994_152-8764del | ||
| XM_011509531.1:c.2139_2369del | XP_011507833.1:p.Gly714_Ser790del | |
| XM_011509531.2:c.2139_2369del | XP_011507833.1:p.Gly714_Ser790del | |
| NM_001014342.3:c.2595_2825del MANE Select | NP_001014364.1:p.Gly866_Ser942del |