Linked Data
ClinVar Variation Id:
1452525
ClinVar RCV Id:
RCV001999851
dbSNP Id:
rs1241071909
gnomAD v2:
8-145639433-GGCTGTGGGCTGAGGCCCTCTTC-G
gnomAD v3:
8-144414049-GGCTGTGGGCTGAGGCCCTCTTC-G
gnomAD v4:
8-144414049-GGCTGTGGGCTGAGGCCCTCTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414056_144414077del , CM000670.2:g.144414056_144414077del | GRCh38 |
| NC_000008.10:g.145639440_145639461del , CM000670.1:g.145639440_145639461del | GRCh37 |
| NC_000008.9:g.145610248_145610269del | NCBI36 |
| NG_012234.2:g.7820_7841del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1174_1195del MANE Select | ENSP00000301305.4:p.Glu392ProfsTer? | |
| ENST00000276833.9:c.1099_1120del | ENSP00000276833.5:p.Glu367ProfsTer? | |
| ENST00000301305.7:c.1174_1195del | ENSP00000301305.3:p.Glu392ProfsTer? | |
| ENST00000531789.1:n.11_32del | ||
| NM_017767.2:c.1099_1120del | NP_060237.2:p.Glu367ProfsTer? | |
| NM_130849.3:c.1174_1195del | NP_570901.2:p.Glu392ProfsTer? | |
| XM_006716599.1:c.1174_1195del | XP_006716662.1:p.Glu392ProfsTer? | |
| XM_011517153.1:c.892_913del | XP_011515455.1:p.Glu298ProfsTer? | |
| XM_024447188.1:c.892_913del | XP_024302956.1:p.Glu298ProfsTer? | |
| XM_024447189.1:c.892_913del | XP_024302957.1:p.Glu298ProfsTer? | |
| NM_001374839.1:c.892_913del | NP_001361768.1:p.Glu298ProfsTer? | |
| NM_017767.3:c.1099_1120del | NP_060237.3:p.Glu367ProfsTer? | |
| NM_130849.4:c.1174_1195del MANE Select | NP_570901.3:p.Glu392ProfsTer? |