Linked Data
gnomAD v3:
5-1414421-C-CAGAGAAGGCACTGGGTGGGGGGCCG
gnomAD v4:
5-1414421-C-CAGAGAAGGCACTGGGTGGGGGGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414421_1414422insAGAGAAGGCACTGGGTGGGGGGCCG , CM000667.2:g.1414421_1414422insAGAGAAGGCACTGGGTGGGGGGCCG | GRCh38 |
| NC_000005.9:g.1414536_1414537insAGAGAAGGCACTGGGTGGGGGGCCG , CM000667.1:g.1414536_1414537insAGAGAAGGCACTGGGTGGGGGGCCG | GRCh37 |
| NC_000005.8:g.1467536_1467537insAGAGAAGGCACTGGGTGGGGGGCCG | NCBI36 |
| NG_015885.1:g.36007_36008insCGGCCCCCCACCCAGTGCCTTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT MANE Select | ENSP00000270349.9:n.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTT... | |
| ENST00000270349.11:c.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT | ENSP00000270349.9:n.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTT... | |
| NM_001044.4:c.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT | NP_001035.1:n.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT | |
| NM_001044.5:c.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT MANE Select | NP_001035.1:n.1156+269_1156+270insCGGCCCCCCACCCAGTGCCTTCTCT |