Linked Data
gnomAD v4:
17-42404784-C-CTGCGCTTGATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404784_42404785insTGCGCTTGATA , CM000679.2:g.42404784_42404785insTGCGCTTGATA | GRCh38 |
| NC_000017.10:g.40556802_40556803insTGCGCTTGATA , CM000679.1:g.40556802_40556803insTGCGCTTGATA | GRCh37 |
| NC_000017.9:g.37810328_37810329insTGCGCTTGATA | NCBI36 |
| NG_015845.1:g.23536_23537insTATCAAGCGCA | |
| NG_015845.2:g.23536_23537insTATCAAGCGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1075_1076insTATCAAGCGCA MANE Select | ENSP00000349541.4:p.Gly359ValfsTer? | |
| ENST00000357037.5:c.1075_1076insTATCAAGCGCA | ENSP00000349541.4:p.Gly359ValfsTer? | |
| NM_012232.5:c.1075_1076insTATCAAGCGCA | NP_036364.2:p.Gly359ValfsTer? | |
| NM_012232.6:c.1075_1076insTATCAAGCGCA MANE Select | NP_036364.2:p.Gly359ValfsTer? |