Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023753_6023754delinsTA , CM000674.2:g.6023753_6023754delinsTA | GRCh38 |
| NC_000012.11:g.6132919_6132920delinsTA , CM000674.1:g.6132919_6132920delinsTA | GRCh37 |
| NC_000012.10:g.6003180_6003181delinsTA | NCBI36 |
| NG_009072.1:g.105917_105918delinsTA | |
| NG_009072.2:g.105917_105918delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3256_3257delinsTA MANE Select | ENSP00000261405.5:p.Tyr1086= | |
| ENST00000261405.9:c.3256_3257delinsTA | ENSP00000261405.5:p.Tyr1086= | |
| ENST00000538635.5:n.421-29820_421-29819delinsTA | ||
| NM_000552.3:c.3256_3257delinsTA | NP_000543.2:p.Tyr1086= | |
| NM_000552.4:c.3256_3257delinsTA | NP_000543.2:p.Tyr1086= | |
| NM_000552.5:c.3256_3257delinsTA MANE Select | NP_000543.3:p.Tyr1086= |