Linked Data
gnomAD v4:
6-1610878-A-ATGTTGCTCCTTAGAAAGCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610878_1610879insTGTTGCTCCTTAGAAAGCAC , CM000668.2:g.1610878_1610879insTGTTGCTCCTTAGAAAGCAC | GRCh38 |
| NC_000006.11:g.1611113_1611114insTGTTGCTCCTTAGAAAGCAC , CM000668.1:g.1611113_1611114insTGTTGCTCCTTAGAAAGCAC | GRCh37 |
| NC_000006.10:g.1556112_1556113insTGTTGCTCCTTAGAAAGCAC | NCBI36 |
| NG_009368.1:g.5433_5434insTGTTGCTCCTTAGAAAGCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.433_434insTGTTGCTCCTTAGAAAGCAC MANE Select | ENSP00000493906.1:p.Lys145MetfsTer? | |
| ENST00000380874.3:c.433_434insTGTTGCTCCTTAGAAAGCAC | ENSP00000370256.2:p.Lys145MetfsTer? | |
| NM_001453.2:c.433_434insTGTTGCTCCTTAGAAAGCAC | NP_001444.2:p.Lys145MetfsTer? | |
| NM_001453.3:c.433_434insTGTTGCTCCTTAGAAAGCAC MANE Select | NP_001444.2:p.Lys145MetfsTer? |