Linked Data
ClinVar Variation Id:
1215766
dbSNP Id:
rs1463296648
gnomAD v2:
X-153607674-CGTGACGCGACAACGATTCGGCT-C
gnomAD v3:
X-154379314-CGTGACGCGACAACGATTCGGCT-C
gnomAD v4:
X-154379314-CGTGACGCGACAACGATTCGGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379346_154379367del , CM000685.2:g.154379346_154379367del | GRCh38 |
| NC_000023.10:g.153607706_153607727del , CM000685.1:g.153607706_153607727del | GRCh37 |
| NC_000023.9:g.153260900_153260921del | NCBI36 |
| NG_008677.1:g.9911_9932del , LRG_745:g.9911_9932del | |
| NG_011506.1:g.311_332del | |
| NG_011506.2:g.303_324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.9:c.-139_-118del MANE Select | ENSP00000358857.4:n.-139_-118del | |
| ENST00000369835.3:c.-139_-118del | ENSP00000358850.3:n.-139_-118del | |
| ENST00000369842.8:c.-139_-118del | ENSP00000358857.4:n.-139_-118del | |
| NM_000117.2:c.-139_-118del , LRG_745t1:c.-139_-118del | NP_000108.1:n.-139_-118del | |
| XM_024452349.1:c.-347_-326del | XP_024308117.1:n.-347_-326del | |
| NM_000117.3:c.-139_-118del MANE Select | NP_000108.1:n.-139_-118del |