Linked Data
dbSNP Id:
rs1189949592
gnomAD v2:
4-6293271-CCTGTAGAGACCGTG-C
gnomAD v3:
4-6291544-CCTGTAGAGACCGTG-C
gnomAD v4:
4-6291544-CCTGTAGAGACCGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291546_6291559del , CM000666.2:g.6291546_6291559del | GRCh38 |
| NC_000004.11:g.6293273_6293286del , CM000666.1:g.6293273_6293286del | GRCh37 |
| NC_000004.10:g.6344174_6344187del | NCBI36 |
| NG_011700.1:g.26697_26710del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.631+179_631+192del | ENSP00000507852.1:n.631+179_631+192del | |
| ENST00000683395.1:c.608+192_608+205del | ||
| ENST00000684087.1:c.631+179_631+192del | ENSP00000506978.1:n.631+179_631+192del | |
| ENST00000684700.1:c.*105_*118del | ENSP00000507806.1:n.*105_*118del | |
| ENST00000506362.2:c.382+179_382+192del | ENSP00000424103.2:n.382+179_382+192del | |
| ENST00000673642.1:c.430+179_430+192del | ENSP00000501242.1:n.430+179_430+192del | |
| ENST00000673991.1:c.631+179_631+192del | ENSP00000501033.1:n.631+179_631+192del | |
| ENST00000226760.5:c.631+179_631+192del MANE Select | ENSP00000226760.1:n.631+179_631+192del | |
| ENST00000503569.5:c.631+179_631+192del | ENSP00000423337.1:n.631+179_631+192del | |
| ENST00000506362.1:c.228+179_228+192del | ||
| ENST00000507765.1:n.816+179_816+192del | ||
| NM_001145853.1:c.631+179_631+192del | NP_001139325.1:n.631+179_631+192del | |
| NM_006005.3:c.631+179_631+192del MANE Select | NP_005996.2:n.631+179_631+192del | |
| XM_017008586.1:c.640+179_640+192del | XP_016864075.1:n.640+179_640+192del |