Linked Data
dbSNP Id:
rs1256784704
gnomAD v3:
11-47341938-TCTGTCTCCATCTCAGTCTCCAC-T
gnomAD v4:
11-47341938-TCTGTCTCCATCTCAGTCTCCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341944_47341965del , CM000673.2:g.47341944_47341965del | GRCh38 |
| NC_000011.9:g.47363495_47363516del , CM000673.1:g.47363495_47363516del | GRCh37 |
| NC_000011.8:g.47320071_47320092del | NCBI36 |
| NG_007667.1:g.15743_15764del , LRG_386:g.15743_15764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1790+31_1790+52del MANE Select | ENSP00000442795.1:n.1790+31_1790+52del | |
| ENST00000256993.8:c.1790+31_1790+52del | ENSP00000256993.5:n.1790+31_1790+52del | |
| ENST00000399249.6:c.1790+31_1790+52del | ENSP00000382193.2:n.1790+31_1790+52del | |
| ENST00000544791.1:c.1790+31_1790+52del | ENSP00000444259.1:n.1790+31_1790+52del | |
| ENST00000545968.5:c.1790+31_1790+52del | ENSP00000442795.1:n.1790+31_1790+52del | |
| NM_000256.3:c.1790+31_1790+52del , LRG_386t1:c.1790+31_1790+52del MANE Select | NP_000247.2:n.1790+31_1790+52del | |
| XM_011520117.1:c.1772+31_1772+52del | XP_011518419.1:n.1772+31_1772+52del | |
| XM_011520118.1:c.1790+31_1790+52del | XP_011518420.1:n.1790+31_1790+52del |