Linked Data
dbSNP Id:
rs760461509
ExAC:
19:51411974 CA / C
gnomAD v2:
19-51411974-CA-C
gnomAD v4:
19-50908718-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908720del , CM000681.2:g.50908720del | GRCh38 |
| NC_000019.9:g.51411976del , CM000681.1:g.51411976del | GRCh37 |
| NC_000019.8:g.56103788del | NCBI36 |
| NG_012154.2:g.7020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.335del MANE Select | ENSP00000326159.1:p.Leu112CysfsTer? | |
| ENST00000324041.5:c.335del | ENSP00000326159.1:p.Leu112CysfsTer? | |
| ENST00000431178.2:c.188del | ENSP00000399448.2:p.Leu63CysfsTer? | |
| ENST00000593885.1:c.50del | ENSP00000469769.1:p.Leu17CysfsTer? | |
| ENST00000596876.1:n.254del | ||
| ENST00000598305.5:c.50del | ENSP00000469963.1:p.Leu17CysfsTer? | |
| ENST00000599865.5:n.188del | ||
| ENST00000602148.1:c.347del | ENSP00000472091.1:n.347del | |
| NM_001302961.1:c.50del | NP_001289890.1:p.Leu17CysfsTer? | |
| NM_004917.4:c.335del | NP_004908.4:p.Leu112CysfsTer? | |
| NR_126566.1:n.328del | ||
| XM_005259441.3:c.50del | XP_005259498.2:p.Leu17CysfsTer? | |
| XM_011527545.1:c.335del | XP_011525847.1:p.Leu112CysfsTer? | |
| XM_011527546.1:c.335del | XP_011525848.1:p.Leu112CysfsTer? | |
| XM_011527547.1:c.188del | XP_011525849.1:p.Leu63CysfsTer? | |
| XM_005259441.4:c.50del | XP_005259498.2:p.Leu17CysfsTer? | |
| XM_011527545.3:c.335del | XP_011525847.1:p.Leu112CysfsTer? | |
| XM_011527546.2:c.335del | XP_011525848.1:p.Leu112CysfsTer? | |
| NM_001302961.2:c.50del | NP_001289890.1:p.Leu17CysfsTer? | |
| NR_126566.2:n.328del | ||
| NM_004917.5:c.335del MANE Select | NP_004908.4:p.Leu112CysfsTer? |