Linked Data
dbSNP Id:
rs762614708
ExAC:
17:37844153 GCTCTT / G
gnomAD v2:
17-37844153-GCTCTT-G
gnomAD v4:
17-39687900-GCTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39687902_39687906del , CM000679.2:g.39687902_39687906del | GRCh38 |
| NC_000017.10:g.37844155_37844159del , CM000679.1:g.37844155_37844159del | GRCh37 |
| NC_000017.9:g.35097681_35097685del | NCBI36 |
| NG_007503.1:g.4763_4767del , LRG_724:g.4763_4767del | |
| NG_034125.1:g.5166_5170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300658.9:c.110_114del MANE Select | ENSP00000300658.4:p.Glu37AlafsTer? | |
| ENST00000300658.8:c.110_114del | ENSP00000300658.4:p.Glu37AlafsTer? | |
| ENST00000309862.10:n.153_157del | ||
| ENST00000378011.8:c.110_114del | ENSP00000367250.4:p.Glu37AlafsTer? | |
| ENST00000429199.6:c.110_114del | ENSP00000415765.2:p.Glu37AlafsTer? | |
| ENST00000579146.5:c.110_114del | ENSP00000463234.1:p.Glu37AlafsTer? | |
| ENST00000582276.1:n.145_149del | ||
| ENST00000584620.5:c.97_101del | ||
| ENST00000584856.1:c.-35-1886_-35-1882del | ENSP00000463785.1:n.-35-1886_-35-1882del | |
| ENST00000614824.4:c.110_114del | ENSP00000480165.1:p.Glu37AlafsTer? | |
| NM_001291726.1:c.110_114del | NP_001278655.1:p.Glu37AlafsTer? | |
| NM_001291728.1:c.110_114del | NP_001278657.1:p.Glu37AlafsTer? | |
| NM_001291730.1:c.110_114del | NP_001278659.1:p.Glu37AlafsTer? | |
| NM_001291732.1:c.110_114del | NP_001278661.1:p.Glu37AlafsTer? | |
| NM_001291733.1:c.110_114del | NP_001278662.1:p.Glu37AlafsTer? | |
| NM_033419.4:c.110_114del | NP_219487.3:p.Glu37AlafsTer? | |
| XM_011525480.1:c.110_114del | XP_011523782.1:p.Glu37AlafsTer? | |
| XM_011525481.1:c.-378_-374del | XP_011523783.1:n.-378_-374del | |
| XR_934601.1:n.153_157del | ||
| XM_011525480.2:c.110_114del | XP_011523782.1:p.Glu37AlafsTer? | |
| XM_011525481.2:c.-378_-374del | XP_011523783.1:n.-378_-374del | |
| XR_002958086.1:n.153_157del | ||
| NM_033419.5:c.110_114del MANE Select | NP_219487.3:p.Glu37AlafsTer? | |
| NM_001291726.2:c.110_114del | NP_001278655.1:p.Glu37AlafsTer? | |
| NM_001291728.2:c.110_114del | NP_001278657.1:p.Glu37AlafsTer? | |
| NM_001291730.2:c.110_114del | NP_001278659.1:p.Glu37AlafsTer? | |
| NM_001291732.2:c.110_114del | NP_001278661.1:p.Glu37AlafsTer? | |
| NM_001291733.2:c.110_114del | NP_001278662.1:p.Glu37AlafsTer? |