Linked Data
dbSNP Id:
rs1165885705
gnomAD v2:
6-139694507-CTGTTGCTGCTGCCCG-C
gnomAD v4:
6-139373370-CTGTTGCTGCTGCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.139373371_139373385del , CM000668.2:g.139373371_139373385del | GRCh38 |
| NC_000006.11:g.139694508_139694522del , CM000668.1:g.139694508_139694522del | GRCh37 |
| NC_000006.10:g.139736201_139736215del | NCBI36 |
| NG_016169.1:g.6264_6278del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367651.4:c.560_574del MANE Select | ENSP00000356623.2:p.Ala187_Ser192delinsGly | |
| ENST00000367651.3:c.560_574del | ENSP00000356623.2:p.Ala187_Ser192delinsGly | |
| ENST00000536159.2:c.560_574del | ENSP00000442831.1:p.Ala187_Ser192delinsGly | |
| ENST00000537332.2:c.575_589del | ENSP00000444198.2:p.Ala192_Ser197delinsGly | |
| ENST00000618718.1:c.476+84_477-74del | ENSP00000479918.1:n.476+84_477-74del | |
| NM_001168388.2:c.560_574del | NP_001161860.1:p.Ala187_Ser192delinsGly | |
| NM_001168389.2:c.575_589del | NP_001161861.2:p.Ala192_Ser197delinsGly | |
| NM_006079.4:c.560_574del | NP_006070.2:p.Ala187_Ser192delinsGly | |
| NM_006079.5:c.560_574del MANE Select | NP_006070.2:p.Ala187_Ser192delinsGly | |
| NM_001168388.3:c.560_574del | NP_001161860.1:p.Ala187_Ser192delinsGly | |
| NM_001168389.3:c.575_589del | NP_001161861.2:p.Ala192_Ser197delinsGly |