Linked Data
gnomAD v4:
12-52675456-T-TGCCACGGCCGCCGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675458_52675459insCACGGCCGCCGCCGCCGC , CM000674.2:g.52675458_52675459insCACGGCCGCCGCCGCCGC | GRCh38 |
| NC_000012.11:g.53069242_53069243insCACGGCCGCCGCCGCCGC , CM000674.1:g.53069242_53069243insCACGGCCGCCGCCGCCGC | GRCh37 |
| NC_000012.10:g.51355509_51355510insCACGGCCGCCGCCGCCGC | NCBI36 |
| NG_008364.1:g.9951_9952insGGCGGCGGCGGCCGTGGC | |
| NG_008364.2:g.9951_9952insGGCGGCGGCGGCCGTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1671_1672insGGCGGCGGCGGCCGTGGC MANE Select | ENSP00000252244.3:p.Ser557_Ser558insGlyGlyGlyGlyArgGly | |
| NM_006121.3:c.1671_1672insGGCGGCGGCGGCCGTGGC | NP_006112.3:p.Ser557_Ser558insGlyGlyGlyGlyArgGly | |
| NM_006121.4:c.1671_1672insGGCGGCGGCGGCCGTGGC MANE Select | NP_006112.3:p.Ser557_Ser558insGlyGlyGlyGlyArgGly |