ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35851557del , CM000681.2:g.35851557del | GRCh38 |
| NC_000019.9:g.36342459del , CM000681.1:g.36342459del | GRCh37 |
| NC_000019.8:g.41034299del | NCBI36 |
| NG_013356.2:g.22731del , LRG_693:g.22731del | |
| NG_051206.1:g.4923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.174del MANE Select | ENSP00000368190.4:p.Gly59AlafsTer? | |
| ENST00000353632.6:c.174del | ENSP00000343634.5:p.Gly59AlafsTer? | |
| ENST00000378910.9:c.174del | ENSP00000368190.4:p.Gly59AlafsTer? | |
| NM_004646.3:c.174del , LRG_693t1:c.174del | NP_004637.1:p.Gly59AlafsTer? | |
| NM_004646.4:c.174del MANE Select | NP_004637.1:p.Gly59AlafsTer? |