ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102837194_102837209del , CM000672.2:g.102837194_102837209del | GRCh38 |
| NC_000010.10:g.104596951_104596966del , CM000672.1:g.104596951_104596966del | GRCh37 |
| NC_000010.9:g.104586941_104586956del | NCBI36 |
| NG_007955.1:g.5327_5342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.155_170del MANE Select | ENSP00000358903.3:p.Asn52ArgfsTer18 | |
| ENST00000638190.1:c.155_170del | ENSP00000492539.1:p.Asn52ArgfsTer18 | |
| ENST00000638272.1:c.155_170del | ENSP00000491508.1:p.Asn52ArgfsTer18 | |
| ENST00000638971.1:c.155_170del | ENSP00000492313.1:p.Asn52ArgfsTer18 | |
| ENST00000639393.1:c.155_170del | ENSP00000492651.1:p.Asn52ArgfsTer18 | |
| ENST00000369887.3:c.155_170del | ENSP00000358903.3:p.Asn52ArgfsTer18 | |
| ENST00000489268.1:n.208_223del | ||
| NM_000102.3:c.155_170del | NP_000093.1:p.Asn52ArgfsTer18 | |
| NM_000102.4:c.155_170del MANE Select | NP_000093.1:p.Asn52ArgfsTer18 |