Linked Data
dbSNP Id:
rs1219081091
gnomAD v2:
11-47370250-C-CTCCA
MyVariant Identifiers:
chr11:g.47370250_47370251insTCCA (hg19)
chr11:g.47348699_47348700insTCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47348700_47348703dup , CM000673.2:g.47348700_47348703dup | GRCh38 |
| NC_000011.9:g.47370251_47370254dup , CM000673.1:g.47370251_47370254dup | GRCh37 |
| NC_000011.8:g.47326827_47326830dup | NCBI36 |
| NG_007667.1:g.9000_9003dup , LRG_386:g.9000_9003dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.655-162_655-159dup MANE Select | ENSP00000442795.1:n.655-162_655-159dup | |
| ENST00000256993.8:c.655-162_655-159dup | ENSP00000256993.5:n.655-162_655-159dup | |
| ENST00000399249.6:c.655-162_655-159dup | ENSP00000382193.2:n.655-162_655-159dup | |
| ENST00000544791.1:c.655-162_655-159dup | ENSP00000444259.1:n.655-162_655-159dup | |
| ENST00000545968.5:c.655-162_655-159dup | ENSP00000442795.1:n.655-162_655-159dup | |
| NM_000256.3:c.655-162_655-159dup , LRG_386t1:c.655-162_655-159dup MANE Select | NP_000247.2:n.655-162_655-159dup | |
| XM_011520117.1:c.655-162_655-159dup | XP_011518419.1:n.655-162_655-159dup | |
| XM_011520118.1:c.655-162_655-159dup | XP_011518420.1:n.655-162_655-159dup |