Linked Data
dbSNP Id:
rs1425990899
gnomAD v2:
4-6304388-CTG-C
gnomAD v3:
4-6302661-CTG-C
gnomAD v4:
4-6302661-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302662_6302663del , CM000666.2:g.6302662_6302663del | GRCh38 |
| NC_000004.11:g.6304389_6304390del , CM000666.1:g.6304389_6304390del | GRCh37 |
| NC_000004.10:g.6355290_6355291del | NCBI36 |
| NG_011700.1:g.37813_37814del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*194_*195del | ENSP00000507852.1:n.*194_*195del | |
| ENST00000683395.1:c.2844_2845del | ||
| ENST00000684087.1:c.*194_*195del | ENSP00000506978.1:n.*194_*195del | |
| ENST00000506362.2:c.*194_*195del | ENSP00000424103.2:n.*194_*195del | |
| ENST00000673991.1:c.*194_*195del | ENSP00000501033.1:n.*194_*195del | |
| ENST00000226760.5:c.*194_*195del MANE Select | ENSP00000226760.1:n.*194_*195del | |
| ENST00000503569.5:c.*194_*195del | ENSP00000423337.1:n.*194_*195del | |
| ENST00000507765.1:n.3052_3053del | ||
| NM_001145853.1:c.*194_*195del | NP_001139325.1:n.*194_*195del | |
| NM_006005.3:c.*194_*195del MANE Select | NP_005996.2:n.*194_*195del | |
| XM_017008586.1:c.*194_*195del | XP_016864075.1:n.*194_*195del |