Linked Data
ClinVar Variation Id:
2433508
ClinVar RCV Id:
RCV003134097
gnomAD v4:
17-44254560-ACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254565_44254567del , CM000679.2:g.44254565_44254567del | GRCh38 |
| NC_000017.10:g.42331933_42331935del , CM000679.1:g.42331933_42331935del | GRCh37 |
| NC_000017.9:g.39687459_39687461del | NCBI36 |
| NG_007498.1:g.18572_18574del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1990_1992del MANE Select | ENSP00000262418.6:p.Met664del | |
| ENST00000262418.10:c.1990_1992del | ENSP00000262418.6:p.Met664del | |
| ENST00000399246.3:c.892_894del | ENSP00000382190.3:p.Met298del | |
| NM_000342.3:c.1990_1992del | NP_000333.1:p.Met664del | |
| XM_005257593.3:c.1795_1797del | XP_005257650.1:p.Met599del | |
| XM_011525129.1:c.1900_1902del | XP_011523431.1:p.Met634del | |
| XM_011525130.1:c.1990_1992del | XP_011523432.1:p.Met664del | |
| XM_011525131.1:c.1990_1992del | XP_011523433.1:p.Met664del | |
| XM_005257593.5:c.1795_1797del | XP_005257650.1:p.Met599del | |
| XM_011525129.2:c.1900_1902del | XP_011523431.1:p.Met634del | |
| NM_000342.4:c.1990_1992del MANE Select | NP_000333.1:p.Met664del |