Linked Data
dbSNP Id:
rs1954388228
gnomAD v3:
2-219419182-C-CACCCTTTCTGAA
gnomAD v4:
2-219419182-C-CACCCTTTCTGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219419185_219419186insCTTTCTGAAACC , CM000664.2:g.219419185_219419186insCTTTCTGAAACC | GRCh38 |
| NC_000002.11:g.220283907_220283908insCTTTCTGAAACC , CM000664.1:g.220283907_220283908insCTTTCTGAAACC | GRCh37 |
| NC_000002.10:g.219992151_219992152insCTTTCTGAAACC | NCBI36 |
| NG_008043.1:g.5809_5810insCTTTCTGAAACC , LRG_380:g.5809_5810insCTTTCTGAAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.578+145_578+146insCTTTCTGAAACC MANE Select | ENSP00000363071.3:n.578+145_578+146insCTTTCTGAAACC | |
| ENST00000373960.3:c.578+145_578+146insCTTTCTGAAACC | ENSP00000363071.3:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001927.3:c.578+145_578+146insCTTTCTGAAACC , LRG_380t1:c.578+145_578+146insCTTTCTGAAACC | NP_001918.3:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001927.4:c.578+145_578+146insCTTTCTGAAACC MANE Select | NP_001918.3:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382708.1:c.578+145_578+146insCTTTCTGAAACC | NP_001369637.1:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382709.1:c.578+145_578+146insCTTTCTGAAACC | NP_001369638.1:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382710.1:c.578+145_578+146insCTTTCTGAAACC | NP_001369639.1:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382711.1:c.578+145_578+146insCTTTCTGAAACC | NP_001369640.1:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382712.1:c.578+145_578+146insCTTTCTGAAACC | NP_001369641.1:n.578+145_578+146insCTTTCTGAAACC | |
| NM_001382713.1:c.495+228_495+229insCTTTCTGAAACC | NP_001369642.1:n.495+228_495+229insCTTTCTGAAACC |