Linked Data
ClinVar Variation Id:
2573405
ClinVar RCV Id:
RCV003317741
dbSNP Id:
rs753383908
ExAC:
17:42449744 TTCA / T
gnomAD v2:
17-42449744-TTCA-T
gnomAD v3:
17-44372376-TTCA-T
gnomAD v4:
17-44372376-TTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372382_44372384del , CM000679.2:g.44372382_44372384del | GRCh38 |
| NC_000017.10:g.42449750_42449752del , CM000679.1:g.42449750_42449752del | GRCh37 |
| NC_000017.9:g.39805276_39805278del | NCBI36 |
| NG_008331.1:g.22127_22129del , LRG_479:g.22127_22129del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3105_3107del MANE Select | ENSP00000262407.5:p.Asp1035del | |
| ENST00000648408.1:c.2419_2421del | ||
| ENST00000262407.5:c.3105_3107del | ENSP00000262407.5:p.Asp1035del | |
| ENST00000587295.5:c.298_300del | ||
| ENST00000588098.1:c.82_84del | ||
| NM_000419.3:c.3105_3107del , LRG_479t1:c.3105_3107del | NP_000410.2:p.Asp1035del | |
| XM_011524749.1:c.3003_3005del | XP_011523051.1:p.Asp1001del | |
| XM_011524750.1:c.2988_2990del | XP_011523052.1:p.Asp996del | |
| NM_000419.4:c.3105_3107del | NP_000410.2:p.Asp1035del | |
| NM_000419.5:c.3105_3107del MANE Select | NP_000410.2:p.Asp1035del |