Linked Data
ClinVar Variation Id:
56551
ClinVar RCV Id:
RCV000049964
dbSNP Id:
rs386833987
gnomAD v2:
6-74325140-CTA-C
gnomAD v3:
6-73615417-CTA-C
gnomAD v4:
6-73615417-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73615418_73615419del , CM000668.2:g.73615418_73615419del | GRCh38 |
| NC_000006.11:g.74325141_74325142del , CM000668.1:g.74325141_74325142del | GRCh37 |
| NC_000006.10:g.74381862_74381863del | NCBI36 |
| NG_008272.1:g.43596_43597del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.1007_1008del MANE Select | ENSP00000348019.5:p.Leu336TrpfsTer14 | |
| ENST00000355773.5:c.1007_1008del | ENSP00000348019.5:p.Leu336TrpfsTer14 | |
| NM_012434.4:c.1007_1008del | NP_036566.1:p.Leu336TrpfsTer14 | |
| XM_005248710.2:c.956_957del | XP_005248767.1:p.Leu319TrpfsTer14 | |
| XM_005248711.1:c.809_810del | XP_005248768.1:p.Leu270TrpfsTer14 | |
| XM_011535750.1:c.1007_1008del | XP_011534052.1:p.Leu336TrpfsTer14 | |
| NM_012434.5:c.1007_1008del MANE Select | NP_036566.1:p.Leu336TrpfsTer14 | |
| NM_001382629.1:c.776_777del | NP_001369558.1:p.Leu259TrpfsTer14 | |
| NM_001382630.1:c.1007_1008del | NP_001369559.1:p.Leu336TrpfsTer14 | |
| NM_001382631.1:c.1028_1029del | NP_001369560.1:p.Leu343TrpfsTer14 | |
| NM_001382632.1:c.920_921del | NP_001369561.1:p.Leu307TrpfsTer14 | |
| NM_001382633.1:c.1007_1008del | NP_001369562.1:p.Leu336TrpfsTer14 | |
| NM_001382634.1:c.848_849del | NP_001369563.1:p.Leu283TrpfsTer14 | |
| NM_001382635.1:c.1004_1005del | NP_001369564.1:p.Leu335TrpfsTer14 | |
| NM_001382636.1:c.689_690del | NP_001369565.1:p.Leu230TrpfsTer14 |