ClinGen Evidence Repository:
Classification
Likely Pathogenic
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792357_34792359delinsTCCGAACGATCCC , CM000683.2:g.34792357_34792359delinsTCCGAACGATCCC | GRCh38 |
| NC_000021.8:g.36164654_36164656delinsTCCGAACGATCCC , CM000683.1:g.36164654_36164656delinsTCCGAACGATCCC | GRCh37 |
| NC_000021.7:g.35086524_35086526delinsTCCGAACGATCCC | NCBI36 |
| NG_011402.2:g.1197353_1197355delinsGGGATCGTTCGGA , LRG_482:g.1197353_1197355delinsGGGATCGTTCGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1219_1221delinsGGGATCGTTCGGA MANE Select | ENSP00000501943.1:p.Tyr407GlyfsTer? | |
| ENST00000300305.7:c.1219_1221delinsGGGATCGTTCGGA | ENSP00000300305.3:p.Tyr407GlyfsTer? | |
| ENST00000344691.8:c.1138_1140delinsGGGATCGTTCGGA | ENSP00000340690.4:p.Tyr380GlyfsTer? | |
| ENST00000399240.5:c.946_948delinsGGGATCGTTCGGA | ENSP00000382184.1:p.Tyr316GlyfsTer? | |
| ENST00000437180.5:c.1219_1221delinsGGGATCGTTCGGA | ENSP00000409227.1:p.Tyr407GlyfsTer? | |
| ENST00000482318.5:c.*809_*811delinsGGGATCGTTCGGA | ENSP00000477067.1:n.*809_*811delinsGGGATCGTTCGGA | |
| NM_001001890.2:c.1138_1140delinsGGGATCGTTCGGA | NP_001001890.1:p.Tyr380GlyfsTer? | |
| NM_001754.4:c.1219_1221delinsGGGATCGTTCGGA , LRG_482t1:c.1219_1221delinsGGGATCGTTCGGA | NP_001745.2:p.Tyr407GlyfsTer? | |
| XM_005261068.3:c.1183_1185delinsGGGATCGTTCGGA | XP_005261125.1:p.Tyr395GlyfsTer? | |
| XM_005261069.3:c.1027_1029delinsGGGATCGTTCGGA | XP_005261126.1:p.Tyr343GlyfsTer? | |
| XM_011529766.1:c.1219_1221delinsGGGATCGTTCGGA | XP_011528068.1:p.Tyr407GlyfsTer? | |
| XM_011529767.1:c.1180_1182delinsGGGATCGTTCGGA | XP_011528069.1:p.Tyr394GlyfsTer? | |
| XM_011529768.1:c.988_990delinsGGGATCGTTCGGA | XP_011528070.1:p.Tyr330GlyfsTer? | |
| XM_005261069.4:c.1027_1029delinsGGGATCGTTCGGA | XP_005261126.1:p.Tyr343GlyfsTer? | |
| XM_011529766.2:c.1219_1221delinsGGGATCGTTCGGA | XP_011528068.1:p.Tyr407GlyfsTer? | |
| XM_011529767.2:c.1180_1182delinsGGGATCGTTCGGA | XP_011528069.1:p.Tyr394GlyfsTer? | |
| XM_011529768.2:c.988_990delinsGGGATCGTTCGGA | XP_011528070.1:p.Tyr330GlyfsTer? | |
| XM_017028487.1:c.1066_1068delinsGGGATCGTTCGGA | XP_016883976.1:p.Tyr356GlyfsTer? | |
| NM_001001890.3:c.1138_1140delinsGGGATCGTTCGGA | NP_001001890.1:p.Tyr380GlyfsTer? | |
| NM_001754.5:c.1219_1221delinsGGGATCGTTCGGA MANE Select | NP_001745.2:p.Tyr407GlyfsTer? |