Linked Data
gnomAD v4:
7-73682996-GGCGGCGGGGTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683003_73683014del , CM000669.2:g.73683003_73683014del | GRCh38 |
| NC_000007.13:g.73097333_73097344del , CM000669.1:g.73097333_73097344del | GRCh37 |
| NC_000007.12:g.72735269_72735280del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.416_427del MANE Select | ENSP00000378605.1:p.Arg139_Pro142del | |
| ENST00000395176.2:c.416_427del | ENSP00000378605.1:p.Arg139_Pro142del | |
| NM_032317.2:c.416_427del | NP_115693.2:p.Arg139_Pro142del | |
| NM_032317.3:c.416_427del MANE Select | NP_115693.2:p.Arg139_Pro142del |