Linked Data
ClinVar Variation Id:
558573
ClinVar RCV Id:
RCV000674866
dbSNP Id:
rs779351251
ExAC:
12:102155524 CTTCAAT / C
gnomAD v2:
12-102155524-CTTCAAT-C
gnomAD v4:
12-101761746-CTTCAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761747_101761752del , CM000674.2:g.101761747_101761752del | GRCh38 |
| NC_000012.11:g.102155525_102155530del , CM000674.1:g.102155525_102155530del | GRCh37 |
| NC_000012.10:g.100679656_100679661del | NCBI36 |
| NG_021243.1:g.74116_74121del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2727_2732del MANE Select | ENSP00000299314.7:p.Leu910_Lys911del | |
| ENST00000299314.11:c.2727_2732del | ENSP00000299314.7:p.Leu910_Lys911del | |
| NM_024312.4:c.2727_2732del | NP_077288.2:p.Leu910_Lys911del | |
| XM_006719593.2:c.2727_2732del | XP_006719656.1:p.Leu910_Lys911del | |
| XM_011538731.1:c.2646_2651del | XP_011537033.1:p.Leu883_Lys884del | |
| XM_006719593.3:c.2727_2732del | XP_006719656.1:p.Leu910_Lys911del | |
| XM_011538731.2:c.2646_2651del | XP_011537033.1:p.Leu883_Lys884del | |
| XM_017019961.1:c.2511_2516del | XP_016875450.1:p.Leu838_Lys839del | |
| XM_017019962.2:c.1500_1505del | XP_016875451.1:p.Leu501_Lys502del | |
| NM_024312.5:c.2727_2732del MANE Select | NP_077288.2:p.Leu910_Lys911del |