Linked Data
dbSNP Id:
rs1565219085
gnomAD v2:
11-67353934-G-GT
gnomAD v4:
11-67586463-G-GT
MyVariant Identifiers:
chr11:g.67353934_67353935insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586465dup , CM000673.2:g.67586465dup | GRCh38 |
| NC_000011.9:g.67353936dup , CM000673.1:g.67353936dup | GRCh37 |
| NC_000011.8:g.67110512dup | NCBI36 |
| NG_012075.1:g.7871dup , LRG_723:g.7871dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.413dup | ENSP00000381604.1:p.Leu140ProfsTer23 | |
| ENST00000398606.10:c.521dup MANE Select | ENSP00000381607.3:p.Leu176ProfsTer23 | |
| ENST00000646888.1:c.*237dup | ENSP00000494477.1:n.*237dup | |
| ENST00000398603.5:c.413dup | ENSP00000381604.1:p.Leu140ProfsTer23 | |
| ENST00000398606.7:c.521dup | ENSP00000381607.3:p.Leu176ProfsTer23 | |
| ENST00000467591.1:n.632dup | ||
| ENST00000494593.1:n.1493dup | ||
| ENST00000498765.5:c.584dup | ||
| NM_000852.3:c.521dup , LRG_723t1:c.521dup | NP_000843.1:p.Leu176ProfsTer23 | |
| NM_000852.4:c.521dup MANE Select | NP_000843.1:p.Leu176ProfsTer23 |