Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878124_240878125delinsAA , CM000664.2:g.240878124_240878125delinsAA | GRCh38 |
| NC_000002.11:g.241817541_241817542delinsAA , CM000664.1:g.241817541_241817542delinsAA | GRCh37 |
| NC_000002.10:g.241466214_241466215delinsAA | NCBI36 |
| NG_008005.1:g.14380_14381delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1045_1046delinsAA MANE Select | ENSP00000302620.3:p.Gly349Asn | |
| ENST00000307503.3:c.1045_1046delinsAA | ENSP00000302620.3:p.Gly349Asn | |
| ENST00000470255.1:n.823_824delinsAA | ||
| NM_000030.2:c.1045_1046delinsAA | NP_000021.1:p.Gly349Asn | |
| NM_000030.3:c.1045_1046delinsAA MANE Select | NP_000021.1:p.Gly349Asn |