Linked Data
gnomAD v4:
5-111119044-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111119048_111119049del , CM000667.2:g.111119048_111119049del | GRCh38 |
| NC_000005.9:g.110454746_110454747del , CM000667.1:g.110454746_110454747del | GRCh37 |
| NC_000005.8:g.110482645_110482646del | NCBI36 |
| NG_008979.1:g.31877_31878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1832_1833del MANE Select | ENSP00000424628.3:p.Leu611GlnfsTer? | |
| ENST00000506538.6:c.2000_2001del | ENSP00000423067.2:p.Leu667GlnfsTer? | |
| ENST00000513710.3:c.1832_1833del | ENSP00000424628.3:p.Leu611GlnfsTer? | |
| ENST00000612402.4:c.2000_2001del | ENSP00000479950.1:p.Leu667GlnfsTer? | |
| NM_139281.2:c.2000_2001del | NP_644810.1:p.Leu667GlnfsTer? | |
| XM_011543163.1:c.2000_2001del | XP_011541465.1:p.Leu667GlnfsTer? | |
| NM_139281.3:c.1832_1833del MANE Select | NP_644810.2:p.Leu611GlnfsTer? |