Linked Data
gnomAD v4:
X-25013542-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013542_25013543insCCT , CM000685.2:g.25013542_25013543insCCT | GRCh38 |
| NC_000023.10:g.25031659_25031660insCCT , CM000685.1:g.25031659_25031660insCCT | GRCh37 |
| NC_000023.9:g.24941580_24941581insCCT | NCBI36 |
| NG_008281.1:g.7406_7407insAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.452_453insAGG MANE Select | ENSP00000368332.4:p.Ala151_Ala152insGly | |
| ENST00000379044.4:c.452_453insAGG | ENSP00000368332.4:p.Ala151_Ala152insGly | |
| NM_139058.2:c.452_453insAGG | NP_620689.1:p.Ala151_Ala152insGly | |
| NM_139058.3:c.452_453insAGG MANE Select | NP_620689.1:p.Ala151_Ala152insGly |