Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670989_86670992delinsACTT , CM000670.2:g.86670989_86670992delinsACTT | GRCh38 |
| NC_000008.10:g.87683217_87683220delinsACTT , CM000670.1:g.87683217_87683220delinsACTT | GRCh37 |
| NC_000008.9:g.87752333_87752336delinsACTT | NCBI36 |
| NG_016980.1:g.77684_77687delinsAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.445_448delinsAAGT MANE Select | ENSP00000316605.5:p.Lys149= | |
| ENST00000680314.1:n.206_209delinsAAGT | ||
| ENST00000681746.1:c.445_448delinsAAGT | ENSP00000505959.1:p.Lys149= | |
| ENST00000320005.5:c.445_448delinsAAGT | ENSP00000316605.5:p.Lys149= | |
| NM_019098.4:c.445_448delinsAAGT | NP_061971.3:p.Lys149= | |
| XM_011517138.1:c.31_34delinsAAGT | XP_011515440.1:p.Lys11= | |
| XM_011517138.2:c.31_34delinsAAGT | XP_011515440.1:p.Lys11= | |
| NM_019098.5:c.445_448delinsAAGT MANE Select | NP_061971.3:p.Lys149= |