Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999354_188999355delinsAG , CM000664.2:g.188999354_188999355delinsAG | GRCh38 |
| NC_000002.11:g.189864080_189864081delinsAG , CM000664.1:g.189864080_189864081delinsAG | GRCh37 |
| NC_000002.10:g.189572325_189572326delinsAG | NCBI36 |
| NG_007404.1:g.29982_29983delinsAG , LRG_3:g.29982_29983delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.2092_2093delinsAG MANE Select | NP_000081.2:p.Ala698Ser |
| ENST00000304636.9:c.2092_2093delinsAG MANE Select | ENSP00000304408.4:p.Ala698Ser |
| NM_000090.3:c.2092_2093delinsAG , LRG_3t1:c.2092_2093delinsAG | NP_000081.1:p.Ala698Ser |
| ENST00000304636.7:c.2092_2093delinsAG | ENSP00000304408.3:p.Ala698Ser |
| ENST00000317840.9:c.2092_2093delinsAG | ENSP00000315243.6:p.Ala698Ser |
| ENST00000450867.2:c.1993_1994delinsAG | ENSP00000415346.2:p.Ala665Ser |