Linked Data
ClinVar Variation Id:
1992261
ClinVar RCV Id:
RCV002814334
gnomAD v2:
11-2906120-T-TGGGGCCGGGGCC
gnomAD v3:
11-2884890-T-TGGGGCCGGGGCC
gnomAD v4:
11-2884890-T-TGGGGCCGGGGCC
MyVariant Identifiers:
chr11:g.2906120_2906121insGGGGCCGGGGCC (hg19)
chr11:g.2884890_2884891insGGGGCCGGGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884892_2884903dup , CM000673.2:g.2884892_2884903dup | GRCh38 |
| NC_000011.9:g.2906122_2906133dup , CM000673.1:g.2906122_2906133dup | GRCh37 |
| NC_000011.8:g.2862698_2862709dup | NCBI36 |
| NG_008022.1:g.5864_5875dup , LRG_533:g.5864_5875dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.142+732_142+743dup | ||
| ENST00000380725.2:c.255+300_255+311dup | ENSP00000370101.1:n.255+300_255+311dup | |
| ENST00000414822.8:c.588_599dup | ENSP00000413720.3:p.Pro200_Ala201insAlaProAlaPro | |
| ENST00000430149.3:c.588_599dup | ENSP00000411552.2:p.Pro200_Ala201insAlaProAlaPro | |
| ENST00000440480.8:c.555_566dup MANE Select | ENSP00000411257.2:p.Pro189_Ala190insAlaProAlaPro | |
| ENST00000647251.1:c.255+300_255+311dup | ENSP00000496631.1:n.255+300_255+311dup | |
| ENST00000380725.1:c.255+300_255+311dup | ENSP00000370101.1:n.255+300_255+311dup | |
| ENST00000414822.7:c.588_599dup | ENSP00000413720.3:p.Pro200_Ala201insAlaProAlaPro | |
| ENST00000430149.2:c.588_599dup | ENSP00000411552.2:p.Pro200_Ala201insAlaProAlaPro | |
| ENST00000440480.6:c.555_566dup | ENSP00000411257.2:p.Pro189_Ala190insAlaProAlaPro | |
| NM_000076.2:c.588_599dup , LRG_533t1:c.588_599dup | NP_000067.1:p.Pro200_Ala201insAlaProAlaPro | |
| NM_001122630.1:c.555_566dup | NP_001116102.1:p.Pro189_Ala190insAlaProAlaPro | |
| NM_001122631.1:c.555_566dup | NP_001116103.1:p.Pro189_Ala190insAlaProAlaPro | |
| XM_005252732.3:c.255+300_255+311dup | XP_005252789.1:n.255+300_255+311dup | |
| NM_001362474.1:c.588_599dup | NP_001349403.1:p.Pro200_Ala201insAlaProAlaPro | |
| NM_001362475.1:c.255+300_255+311dup | NP_001349404.1:n.255+300_255+311dup | |
| NM_001122630.2:c.555_566dup MANE Select | NP_001116102.1:p.Pro189_Ala190insAlaProAlaPro | |
| NM_001122631.2:c.555_566dup | NP_001116103.1:p.Pro189_Ala190insAlaProAlaPro | |
| NM_001362474.2:c.588_599dup | NP_001349403.1:p.Pro200_Ala201insAlaProAlaPro | |
| NM_001362475.2:c.255+300_255+311dup | NP_001349404.1:n.255+300_255+311dup |