Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835521_117835531dup , CM000670.2:g.117835521_117835531dup | GRCh38 |
| NC_000008.10:g.118847760_118847770dup , CM000670.1:g.118847760_118847770dup | GRCh37 |
| NC_000008.9:g.118916941_118916951dup | NCBI36 |
| NG_007455.2:g.281290_281300dup , LRG_493:g.281290_281300dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.545_555dup | ||
| ENST00000378204.7:c.1078_1088dup MANE Select | ENSP00000367446.3:p.Trp364SerfsTer12 | |
| ENST00000436216.2:c.446_456dup | ||
| ENST00000378204.6:c.1078_1088dup | ENSP00000367446.2:p.Trp364SerfsTer12 | |
| ENST00000436216.1:c.446_456dup | ||
| ENST00000437196.1:c.95_105dup | ENSP00000407299.1:p.Met36LeufsTer? | |
| NM_000127.2:c.1078_1088dup , LRG_493t1:c.1078_1088dup | NP_000118.2:p.Trp364SerfsTer12 | |
| NM_000127.3:c.1078_1088dup MANE Select | NP_000118.2:p.Trp364SerfsTer12 |