Linked Data
gnomAD v4:
5-177992760-T-TGGGGGGCTGCTGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992767_177992768insTGCTGGGGGGGGGGGGGGGGGC , CM000667.2:g.177992767_177992768insTGCTGGGGGGGGGGGGGGGGGC | GRCh38 |
| NC_000005.9:g.177419768_177419769insTGCTGGGGGGGGGGGGGGGGGC , CM000667.1:g.177419768_177419769insTGCTGGGGGGGGGGGGGGGGGC | GRCh37 |
| NC_000005.8:g.177352374_177352375insTGCTGGGGGGGGGGGGGGGGGC | NCBI36 |
| NG_015889.1:g.8482_8483insCCCCCCCCCCCAGCAGCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.629_630insCCCCCCCCCCCAGCAGCCCCCC MANE Select | ENSP00000311290.2:p.Met214GlnfsTer14 | |
| NM_006261.4:c.629_630insCCCCCCCCCCCAGCAGCCCCCC | NP_006252.3:p.Met214GlnfsTer14 | |
| NM_006261.5:c.629_630insCCCCCCCCCCCAGCAGCCCCCC MANE Select | NP_006252.4:p.Met214GlnfsTer14 |