Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672288_119672289delinsAA , CM000672.2:g.119672288_119672289delinsAA | GRCh38 |
| NC_000010.10:g.121431800_121431801delinsAA , CM000672.1:g.121431800_121431801delinsAA | GRCh37 |
| NC_000010.9:g.121421790_121421791delinsAA | NCBI36 |
| NG_016125.1:g.25919_25920delinsAA , LRG_742:g.25919_25920delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.541_542delinsAA MANE Select | ENSP00000358081.4:p.Ser181Asn | |
| ENST00000369085.7:c.541_542delinsAA | ENSP00000358081.3:p.Ser181Asn | |
| ENST00000450186.1:c.367_368delinsAA | ENSP00000410036.1:p.Ser123Asn | |
| NM_004281.3:c.541_542delinsAA , LRG_742t1:c.541_542delinsAA | NP_004272.2:p.Ser181Asn | |
| XM_005270287.1:c.541_542delinsAA | XP_005270344.1:p.Ser181Asn | |
| XM_005270287.2:c.541_542delinsAA | XP_005270344.1:p.Ser181Asn | |
| NM_004281.4:c.541_542delinsAA MANE Select | NP_004272.2:p.Ser181Asn |