Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464932dup , CM000664.2:g.202464932dup | GRCh38 |
| NC_000002.11:g.203329655dup , CM000664.1:g.203329655dup | GRCh37 |
| NC_000002.10:g.203037900dup | NCBI36 |
| NG_009363.1:g.93606dup , LRG_712:g.93606dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.200dup MANE Select | ENSP00000363708.4:p.Tyr67Ter | |
| ENST00000638587.1:c.125dup | ENSP00000491062.1:p.Tyr42Ter | |
| ENST00000374574.2:c.200dup | ENSP00000363702.2:p.Tyr67Ter | |
| ENST00000374580.8:c.200dup | ENSP00000363708.4:p.Tyr67Ter | |
| ENST00000479069.1:n.107dup | ||
| NM_001204.6:c.200dup , LRG_712t1:c.200dup | NP_001195.2:p.Tyr67Ter | |
| XM_011511687.1:c.200dup | XP_011509989.1:p.Tyr67Ter | |
| XM_011511688.1:c.200dup | XP_011509990.1:p.Tyr67Ter | |
| NM_001204.7:c.200dup MANE Select | NP_001195.2:p.Tyr67Ter |