ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824093del , CM000674.2:g.32824093del | GRCh38 |
| NC_000012.11:g.32977027del , CM000674.1:g.32977027del | GRCh37 |
| NC_000012.10:g.32868294del | NCBI36 |
| NG_009000.1:g.77755del , LRG_398:g.77755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.139del | ||
| ENST00000700559.2:c.1627del | ENSP00000515065.2:p.Val543SerfsTer? | |
| ENST00000700563.2:c.1627del | ENSP00000515066.2:p.Val543SerfsTer? | |
| ENST00000546498.2:n.314del | ||
| ENST00000700555.1:c.67del | ENSP00000515062.1:p.Val23SerfsTer? | |
| ENST00000700556.1:c.98del | ||
| ENST00000700559.1:c.842del | ||
| ENST00000700560.1:n.842del | ||
| ENST00000700561.1:n.968del | ||
| ENST00000700563.1:c.1581del | ||
| ENST00000700564.1:n.1631del | ||
| ENST00000070846.11:c.1759del | ENSP00000070846.6:p.Val587SerfsTer? | |
| ENST00000340811.9:c.1627del MANE Select | ENSP00000342800.5:p.Val543SerfsTer? | |
| ENST00000070846.10:c.1759del | ENSP00000070846.6:p.Val587SerfsTer? | |
| ENST00000340811.8:c.1627del | ENSP00000342800.4:p.Val543SerfsTer? | |
| ENST00000546498.1:n.314del | ||
| ENST00000552612.5:n.48del | ||
| ENST00000613243.1:c.1759del | ENSP00000478295.1:p.Val587SerfsTer? | |
| NM_001005242.2:c.1627del | NP_001005242.2:p.Val543SerfsTer? | |
| NM_004572.3:c.1759del , LRG_398t1:c.1759del | NP_004563.2:p.Val587SerfsTer? | |
| NM_001005242.3:c.1627del MANE Select | NP_001005242.2:p.Val543SerfsTer? | |
| NM_004572.4:c.1759del | NP_004563.2:p.Val587SerfsTer? |