Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149569988_149569989delinsAT , CM000664.2:g.149569988_149569989delinsAT | GRCh38 |
| NC_000002.11:g.150426502_150426503delinsAT , CM000664.1:g.150426502_150426503delinsAT | GRCh37 |
| NC_000002.10:g.150134748_150134749delinsAT | NCBI36 |
| NG_009189.1:g.22828_22829delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.876_877delinsAT MANE Select | ENSP00000301920.5:p.Lys292= | |
| ENST00000303319.9:c.876_877delinsAT | ENSP00000301920.5:p.Lys292= | |
| ENST00000422782.2:c.978_979delinsAT | ENSP00000408331.2:p.Lys326= | |
| ENST00000428879.5:c.876_877delinsAT | ENSP00000389060.1:p.Lys292= | |
| NM_015702.2:c.876_877delinsAT | NP_056517.1:p.Lys292= | |
| NM_015702.3:c.876_877delinsAT MANE Select | NP_056517.1:p.Lys292= |