Linked Data
dbSNP Id:
rs1340376374
gnomAD v2:
11-88911752-CAT-C
gnomAD v3:
11-89178584-CAT-C
gnomAD v4:
11-89178584-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178586_89178587del , CM000673.2:g.89178586_89178587del | GRCh38 |
| NC_000011.9:g.88911754_88911755del , CM000673.1:g.88911754_88911755del | GRCh37 |
| NC_000011.8:g.88551402_88551403del | NCBI36 |
| NG_008748.1:g.5715_5716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.633_634del MANE Select | ENSP00000263321.4:p.His211GlnfsTer18 | |
| ENST00000263321.5:c.633_634del | ENSP00000263321.4:p.His211GlnfsTer18 | |
| ENST00000526139.1:n.694_695del | ||
| NM_000372.4:c.633_634del | NP_000363.1:p.His211GlnfsTer18 | |
| XM_011542970.1:c.633_634del | XP_011541272.1:p.His211GlnfsTer18 | |
| XM_011542970.2:c.633_634del | XP_011541272.1:p.His211GlnfsTer18 | |
| XR_001748321.1:n.2718-65053_2718-65052del | ||
| XR_001748322.1:n.2733-65053_2733-65052del | ||
| NM_000372.5:c.633_634del MANE Select | NP_000363.1:p.His211GlnfsTer18 |