Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132470_46132471delinsAT , CM000683.2:g.46132470_46132471delinsAT | GRCh38 |
| NC_000021.8:g.47552384_47552385delinsAT , CM000683.1:g.47552384_47552385delinsAT | GRCh37 |
| NC_000021.7:g.46376812_46376813delinsAT | NCBI36 |
| NG_008675.1:g.39352_39353delinsAT , LRG_476:g.39352_39353delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001849.4:c.2978_2979delinsAT MANE Select | NP_001840.3:p.Arg993His |
| ENST00000300527.9:c.2978_2979delinsAT MANE Select | ENSP00000300527.4:p.Arg993His |
| NM_001849.3:c.2978_2979delinsAT , LRG_476t1:c.2978_2979delinsAT | NP_001840.3:p.Arg993His |
| ENST00000300527.8:c.2978_2979delinsAT | ENSP00000300527.4:p.Arg993His |
| XM_011529451.1:c.2978_2979delinsAT | XP_011527753.1:p.Arg993His |
| XM_011529452.1:c.2978_2979delinsAT | XP_011527754.1:p.Arg993His |
| XR_937438.1:n.3055_3056delinsAT | |
| XR_937438.2:n.3062_3063delinsAT |