ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21743788dup , CM000685.2:g.21743788dup | GRCh38 |
| NC_000023.10:g.21761906dup , CM000685.1:g.21761906dup | GRCh37 |
| NC_000023.9:g.21671827dup | NCBI36 |
| NG_031916.1:g.19378dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379494.4:c.99dup MANE Select | ENSP00000368808.3:p.Arg34GlnfsTer8 | |
| ENST00000646008.1:c.99dup | ENSP00000493671.1:p.Arg34GlnfsTer8 | |
| ENST00000379494.3:c.99dup | ENSP00000368808.3:p.Arg34GlnfsTer8 | |
| ENST00000494525.1:n.192dup | ||
| NM_014332.2:c.99dup | NP_055147.1:p.Arg34GlnfsTer8 | |
| NR_045617.1:n.330dup | ||
| NM_014332.3:c.99dup MANE Select | NP_055147.1:p.Arg34GlnfsTer8 | |
| NR_045617.2:n.286dup |