Linked Data
dbSNP Id:
rs878853122
gnomAD v2:
11-71936057-C-CG
gnomAD v4:
11-72225013-C-CG
MyVariant Identifiers:
chr11:g.71936063dupG (hg19)
chr11:g.71936058_71936059insG (hg19)
chr11:g.72225019dupG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72225019dup , CM000673.2:g.72225019dup | GRCh38 |
| NC_000011.9:g.71936063dup , CM000673.1:g.71936063dup | GRCh37 |
| NC_000011.8:g.71613711dup | NCBI36 |
| NG_023253.1:g.5182dup | |
| NG_023253.2:g.5182dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.35dup MANE Select | ENSP00000298229.2:p.Ala13ArgfsTer? | |
| ENST00000298229.6:c.35dup | ENSP00000298229.2:p.Ala13ArgfsTer? | |
| ENST00000540973.1:c.35dup | ENSP00000440904.1:p.Ala13ArgfsTer? | |
| ENST00000543234.1:c.35dup | ENSP00000440512.1:p.Ala13ArgfsTer? | |
| NM_001567.3:c.35dup | NP_001558.3:p.Ala13ArgfsTer? | |
| XM_005273978.3:c.35dup | XP_005274035.1:p.Ala13ArgfsTer? | |
| XM_005273979.3:c.35dup | XP_005274036.1:p.Ala13ArgfsTer? | |
| XM_011544999.1:c.35dup | XP_011543301.1:p.Ala13ArgfsTer? | |
| XM_011545000.1:c.35dup | XP_011543302.1:p.Ala13ArgfsTer? | |
| XM_005273979.4:c.35dup | XP_005274036.1:p.Ala13ArgfsTer? | |
| XM_011544999.2:c.35dup | XP_011543301.1:p.Ala13ArgfsTer? | |
| XM_024448501.1:c.35dup | XP_024304269.1:p.Ala13ArgfsTer? | |
| XM_024448502.1:c.35dup | XP_024304270.1:p.Ala13ArgfsTer? | |
| XM_024448503.1:c.-87dup | XP_024304271.1:n.-87dup | |
| XM_024448504.1:c.35dup | XP_024304272.1:p.Ala13ArgfsTer? | |
| XM_024448505.1:c.35dup | XP_024304273.1:p.Ala13ArgfsTer? | |
| NM_001567.4:c.35dup MANE Select | NP_001558.3:p.Ala13ArgfsTer? |