Linked Data
gnomAD v4:
14-23422251-G-GAGAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422251_23422252insAGAGC , CM000676.2:g.23422251_23422252insAGAGC | GRCh38 |
| NC_000014.8:g.23891460_23891461insAGAGC , CM000676.1:g.23891460_23891461insAGAGC | GRCh37 |
| NC_000014.7:g.22961300_22961301insAGAGC | NCBI36 |
| NG_007884.1:g.18410_18411insGCTCT , LRG_384:g.18410_18411insGCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3173_3174insGCTCT MANE Select | ENSP00000347507.3:p.Asp1058GlufsTer4 | |
| ENST00000355349.3:c.3173_3174insGCTCT | ENSP00000347507.3:p.Asp1058GlufsTer4 | |
| NM_000257.3:c.3173_3174insGCTCT | NP_000248.2:p.Asp1058GlufsTer4 | |
| XR_245686.3:n.3279_3280insGCTCT | ||
| XM_017021340.1:c.3173_3174insGCTCT | XP_016876829.1:p.Asp1058GlufsTer4 | |
| NM_000257.4:c.3173_3174insGCTCT MANE Select | NP_000248.2:p.Asp1058GlufsTer4 |