Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117045_19117062del , CM000669.2:g.19117045_19117062del | GRCh38 |
| NC_000007.13:g.19156668_19156685del , CM000669.1:g.19156668_19156685del | GRCh37 |
| NC_000007.12:g.19123193_19123210del | NCBI36 |
| NG_008114.1:g.5611_5628del | |
| NG_008114.2:g.5611_5628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.260_277del MANE Select | ENSP00000242261.5:p.Ala87_Ser93delinsGly | |
| ENST00000242261.5:c.260_277del | ENSP00000242261.5:p.Ala87_Ser93delinsGly | |
| ENST00000354571.5:c.57_74del | ||
| NM_000474.3:c.260_277del | NP_000465.1:p.Ala87_Ser93delinsGly | |
| XM_011515496.1:c.260_277del | XP_011513798.1:p.Ala87_Ser93delinsGly | |
| NR_149001.1:n.611_628del | ||
| NM_000474.4:c.260_277del MANE Select | NP_000465.1:p.Ala87_Ser93delinsGly | |
| NR_149001.2:n.575_592del |