Linked Data
ClinVar Variation Id:
2079261
ClinVar RCV Id:
RCV002982801
dbSNP Id:
rs776444312
gnomAD v2:
1-169454957-GGCCGCC-G
gnomAD v3:
1-169485719-GGCCGCC-G
gnomAD v4:
1-169485719-GGCCGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485732_169485737del , CM000663.2:g.169485732_169485737del | GRCh38 |
| NC_000001.10:g.169454970_169454975del , CM000663.1:g.169454970_169454975del | GRCh37 |
| NC_000001.9:g.167721594_167721599del | NCBI36 |
| NG_008255.1:g.5246_5251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.42_47del MANE Select | ENSP00000236137.5:p.Ala15_Ala16del | |
| ENST00000646596.1:c.42_47del | ENSP00000494404.1:p.Ala15_Ala16del | |
| ENST00000236137.9:c.42_47del | ENSP00000236137.5:p.Ala15_Ala16del | |
| ENST00000367804.4:c.42_47del | ENSP00000356778.3:p.Ala15_Ala16del | |
| NM_006996.2:c.42_47del | NP_008927.1:p.Ala15_Ala16del | |
| XM_011509076.1:c.12+328_12+333del | XP_011507378.1:n.12+328_12+333del | |
| XM_011509077.1:c.42_47del | XP_011507379.1:p.Ala15_Ala16del | |
| NM_001319667.1:c.42_47del | NP_001306596.1:p.Ala15_Ala16del | |
| NM_006996.3:c.42_47del MANE Select | NP_008927.1:p.Ala15_Ala16del |