Linked Data
gnomAD v4:
4-40354305-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354307_40354308del , CM000666.2:g.40354307_40354308del | GRCh38 |
| NC_000004.11:g.40356324_40356325del , CM000666.1:g.40356324_40356325del | GRCh37 |
| NC_000004.10:g.40051081_40051082del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1227_1228del MANE Select | ENSP00000312663.2:p.Asn410ProfsTer19 | |
| ENST00000310169.2:c.1227_1228del | ENSP00000312663.2:p.Asn410ProfsTer19 | |
| NM_017581.3:c.1227_1228del | NP_060051.2:p.Asn410ProfsTer19 | |
| NM_017581.4:c.1227_1228del MANE Select | NP_060051.2:p.Asn410ProfsTer19 |