Linked Data
dbSNP Id:
rs760855166
ExAC:
5:79970955 CT / C
gnomAD v3:
5-80675136-CT-C
gnomAD v4:
5-80675136-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675139del , CM000667.2:g.80675139del | GRCh38 |
| NC_000005.9:g.79970958del , CM000667.1:g.79970958del | GRCh37 |
| NC_000005.8:g.80006714del | NCBI36 |
| NG_016607.1:g.25665del | |
| NG_016607.2:g.25665del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1173+11del MANE Select | ENSP00000265081.6:n.1173+11del | |
| ENST00000658259.1:c.1005+11del | ENSP00000499617.1:n.1005+11del | |
| ENST00000667069.1:c.1173+11del | ENSP00000499502.1:n.1173+11del | |
| ENST00000670357.1:c.1173+11del | ENSP00000499791.1:n.1173+11del | |
| ENST00000265081.6:c.1173+11del | ENSP00000265081.6:n.1173+11del | |
| NM_002439.4:c.1173+11del | NP_002430.3:n.1173+11del | |
| NM_002439.5:c.1173+11del MANE Select | NP_002430.3:n.1173+11del |