Linked Data
ClinVar Variation Id:
3010545
ClinVar RCV Id:
RCV003862184
dbSNP Id:
rs780004725
ExAC:
2:215843508 AAAG / A
gnomAD v2:
2-215843508-AAAG-A
gnomAD v4:
2-214978784-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978787_214978789del , CM000664.2:g.214978787_214978789del | GRCh38 |
| NC_000002.11:g.215843511_215843513del , CM000664.1:g.215843511_215843513del | GRCh37 |
| NC_000002.10:g.215551756_215551758del | NCBI36 |
| NG_007074.1:g.164641_164643del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.4977+17_4977+19del MANE Select | ENSP00000272895.7:n.4977+17_4977+19del | |
| ENST00000272895.11:c.4977+17_4977+19del | ENSP00000272895.7:n.4977+17_4977+19del | |
| ENST00000389661.4:c.4023+17_4023+19del | ENSP00000374312.4:n.4023+17_4023+19del | |
| NM_015657.3:c.4023+17_4023+19del | NP_056472.2:n.4023+17_4023+19del | |
| NM_173076.2:c.4977+17_4977+19del | NP_775099.2:n.4977+17_4977+19del | |
| NR_103740.1:n.5277+17_5277+19del | ||
| XM_011510951.1:c.4986+17_4986+19del | XP_011509253.1:n.4986+17_4986+19del | |
| XM_011510952.1:c.4986+17_4986+19del | XP_011509254.1:n.4986+17_4986+19del | |
| XM_011510951.2:c.4986+17_4986+19del | XP_011509253.1:n.4986+17_4986+19del | |
| NM_173076.3:c.4977+17_4977+19del MANE Select | NP_775099.2:n.4977+17_4977+19del | |
| NR_103740.2:n.5475+17_5475+19del | ||
| NM_015657.4:c.4023+17_4023+19del | NP_056472.2:n.4023+17_4023+19del |