Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965583_37965586dup , CM000670.2:g.37965583_37965586dup | GRCh38 |
| NC_000008.10:g.37823101_37823104dup , CM000670.1:g.37823101_37823104dup | GRCh37 |
| NC_000008.9:g.37942258_37942261dup | NCBI36 |
| NG_011936.1:g.6081_6084dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.884_887dup MANE Select | ENSP00000343782.3:p.Ile297SerfsTer? | |
| ENST00000520341.2:n.1012_1015dup | ||
| ENST00000647937.1:c.368_371dup | ENSP00000497740.1:p.Ile125SerfsTer? | |
| ENST00000345060.4:c.884_887dup | ENSP00000343782.3:p.Ile297SerfsTer? | |
| ENST00000520341.1:n.159_162dup | ||
| ENST00000614635.1:c.884_887dup | ENSP00000480325.1:p.Ile297SerfsTer? | |
| NM_000025.2:c.884_887dup | NP_000016.1:p.Ile297SerfsTer? | |
| NM_000025.3:c.884_887dup MANE Select | NP_000016.1:p.Ile297SerfsTer? |