Linked Data
gnomAD v4:
4-40354312-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354312_40354313insA , CM000666.2:g.40354312_40354313insA | GRCh38 |
| NC_000004.11:g.40356329_40356330insA , CM000666.1:g.40356329_40356330insA | GRCh37 |
| NC_000004.10:g.40051086_40051087insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310169.3:c.1232_1233insA MANE Select | ENSP00000312663.2:p.Gln412SerfsTer18 | |
| ENST00000310169.2:c.1232_1233insA | ENSP00000312663.2:p.Gln412SerfsTer18 | |
| NM_017581.3:c.1232_1233insA | NP_060051.2:p.Gln412SerfsTer18 | |
| NM_017581.4:c.1232_1233insA MANE Select | NP_060051.2:p.Gln412SerfsTer18 |