Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569967_149569968delinsAT , CM000664.2:g.149569967_149569968delinsAT | GRCh38 |
| NC_000002.11:g.150426481_150426482delinsAT , CM000664.1:g.150426481_150426482delinsAT | GRCh37 |
| NC_000002.10:g.150134727_150134728delinsAT | NCBI36 |
| NG_009189.1:g.22849_22850delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.*6_*7delinsAT MANE Select | ENSP00000301920.5:n.*6_*7delinsAT | |
| ENST00000303319.9:c.*6_*7delinsAT | ENSP00000301920.5:n.*6_*7delinsAT | |
| ENST00000422782.2:c.*6_*7delinsAT | ENSP00000408331.2:n.*6_*7delinsAT | |
| ENST00000428879.5:c.*6_*7delinsAT | ENSP00000389060.1:n.*6_*7delinsAT | |
| NM_015702.2:c.*6_*7delinsAT | NP_056517.1:n.*6_*7delinsAT | |
| NM_015702.3:c.*6_*7delinsAT MANE Select | NP_056517.1:n.*6_*7delinsAT |