Linked Data
dbSNP Id:
rs1460356006
gnomAD v2:
22-43558971-CGTG-C
gnomAD v3:
22-43162965-CGTG-C
gnomAD v4:
22-43162965-CGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162967_43162969del , CM000684.2:g.43162967_43162969del | GRCh38 |
| NC_000022.10:g.43558973_43558975del , CM000684.1:g.43558973_43558975del | GRCh37 |
| NC_000022.9:g.41888917_41888919del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.486_488del MANE Select | ENSP00000338004.3:p.Gly163del | |
| ENST00000329563.8:c.486_488del | ENSP00000328973.4:p.Gly163del | |
| ENST00000337554.7:c.486_488del | ENSP00000338004.3:p.Gly163del | |
| ENST00000396265.4:c.486_488del | ENSP00000379563.4:p.Gly163del | |
| ENST00000583777.5:c.174_176del | ENSP00000463495.1:p.Gly59del | |
| NM_000714.5:c.486_488del | NP_000705.2:p.Gly163del | |
| NM_001256530.1:c.486_488del | NP_001243459.1:p.Gly163del | |
| NM_001256531.1:c.486_488del | NP_001243460.1:p.Gly163del | |
| NR_046308.1:n.395_397del | ||
| NM_000714.6:c.486_488del MANE Select | NP_000705.2:p.Gly163del | |
| NR_046308.2:n.350_352del |