Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540053dup , CM000664.2:g.232540053dup | GRCh38 |
| NC_000002.11:g.233404763dup , CM000664.1:g.233404763dup | GRCh37 |
| NC_000002.10:g.233113007dup | NCBI36 |
| NG_012954.1:g.5327dup | |
| NG_012954.2:g.5362dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.117dup MANE Select | NP_005190.4:p.Asn40GlnfsTer? |
| ENST00000651502.1:c.117dup MANE Select | ENSP00000498757.1:p.Asn40GlnfsTer? |
| NM_005199.4:c.117dup | NP_005190.4:p.Asn40GlnfsTer? |
| ENST00000389492.3:c.117dup | ENSP00000374143.3:p.Asn40GlnfsTer? |
| ENST00000389494.7:c.117dup | ENSP00000374145.3:p.Asn40GlnfsTer? |
| ENST00000485094.1:n.138dup |