Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837057dup , CM000670.2:g.117837057dup | GRCh38 |
| NC_000008.10:g.118849296dup , CM000670.1:g.118849296dup | GRCh37 |
| NC_000008.9:g.118918477dup | NCBI36 |
| NG_007455.2:g.279764dup , LRG_493:g.279764dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.523+52dup | ||
| ENST00000378204.7:c.1056+52dup MANE Select | ENSP00000367446.3:n.1056+52dup | |
| ENST00000436216.2:c.424+52dup | ||
| ENST00000378204.6:c.1056+52dup | ENSP00000367446.2:n.1056+52dup | |
| ENST00000436216.1:c.424+52dup | ||
| ENST00000437196.1:c.74-1505dup | ENSP00000407299.1:n.74-1505dup | |
| NM_000127.2:c.1056+52dup , LRG_493t1:c.1056+52dup | NP_000118.2:n.1056+52dup | |
| NM_000127.3:c.1056+52dup MANE Select | NP_000118.2:n.1056+52dup |