Linked Data
gnomAD v4:
12-52651842-T-TGCCGCCTCCAAGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651844_52651845insCGCCTCCAAGGCCGC , CM000674.2:g.52651844_52651845insCGCCTCCAAGGCCGC | GRCh38 |
| NC_000012.11:g.53045628_53045629insCGCCTCCAAGGCCGC , CM000674.1:g.53045628_53045629insCGCCTCCAAGGCCGC | GRCh37 |
| NC_000012.10:g.51331895_51331896insCGCCTCCAAGGCCGC | NCBI36 |
| NG_008296.1:g.5333_5334insGGCCTTGGAGGCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.300_301insGGCCTTGGAGGCGGC MANE Select | ENSP00000310861.3:p.Ser100_Ser101insGlyLeuGlyGlyGly | |
| ENST00000309680.3:c.300_301insGGCCTTGGAGGCGGC | ENSP00000310861.3:p.Ser100_Ser101insGlyLeuGlyGlyGly | |
| NM_000423.2:c.300_301insGGCCTTGGAGGCGGC | NP_000414.2:p.Ser100_Ser101insGlyLeuGlyGlyGly | |
| NM_000423.3:c.300_301insGGCCTTGGAGGCGGC MANE Select | NP_000414.2:p.Ser100_Ser101insGlyLeuGlyGlyGly |