ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32896571_32896592del , CM000674.2:g.32896571_32896592del | GRCh38 |
| NC_000012.11:g.33049505_33049526del , CM000674.1:g.33049505_33049526del | GRCh37 |
| NC_000012.10:g.32940772_32940793del | NCBI36 |
| NG_009000.1:g.5259_5280del , LRG_398:g.5259_5280del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546741.3:c.144_165del | ENSP00000481383.2:p.Gln49SerfsTer23 | |
| ENST00000700559.2:c.144_165del | ENSP00000515065.2:p.Gln49SerfsTer? | |
| ENST00000700563.2:c.144_165del | ENSP00000515066.2:p.Gln49SerfsTer? | |
| ENST00000700563.1:c.98_119del | ||
| ENST00000700564.1:n.148_169del | ||
| ENST00000070846.11:c.144_165del | ENSP00000070846.6:p.Gln49SerfsTer? | |
| ENST00000340811.9:c.144_165del MANE Select | ENSP00000342800.5:p.Gln49SerfsTer? | |
| ENST00000070846.10:c.144_165del | ENSP00000070846.6:p.Gln49SerfsTer? | |
| ENST00000340811.8:c.144_165del | ENSP00000342800.4:p.Gln49SerfsTer? | |
| ENST00000546741.2:c.14_35del | ||
| ENST00000613243.1:c.144_165del | ENSP00000478295.1:p.Gln49SerfsTer? | |
| NM_001005242.2:c.144_165del | NP_001005242.2:p.Gln49SerfsTer? | |
| NM_004572.3:c.144_165del , LRG_398t1:c.144_165del | NP_004563.2:p.Gln49SerfsTer? | |
| NM_001005242.3:c.144_165del MANE Select | NP_001005242.2:p.Gln49SerfsTer? | |
| NM_004572.4:c.144_165del | NP_004563.2:p.Gln49SerfsTer? |