Linked Data
gnomAD v4:
5-71719351-CTACCTCTGTTGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719356_71719368del , CM000667.2:g.71719356_71719368del | GRCh38 |
| NC_000005.9:g.71015183_71015195del , CM000667.1:g.71015183_71015195del | GRCh37 |
| NC_000005.8:g.71050939_71050951del | NCBI36 |
| NG_015988.1:g.5194_5206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.63_75del MANE Select | ENSP00000296777.4:p.Leu22ValfsTer28 | |
| ENST00000296777.4:c.63_75del | ENSP00000296777.4:p.Leu22ValfsTer28 | |
| NM_004291.3:c.63_75del | NP_004282.1:p.Leu22ValfsTer28 | |
| NM_004291.4:c.63_75del MANE Select | NP_004282.1:p.Leu22ValfsTer28 |