Linked Data
gnomAD v4:
19-18783127-CCGCATGGTTGTGTCCAAGACCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783130_18783151del , CM000681.2:g.18783130_18783151del | GRCh38 |
| NC_000019.9:g.18893940_18893961del , CM000681.1:g.18893940_18893961del | GRCh37 |
| NC_000019.8:g.18754940_18754961del | NCBI36 |
| NG_007070.1:g.13156_13177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.2132_2153del MANE Select | ENSP00000222271.2:p.Val711GlyfsTer? | |
| ENST00000222271.6:c.2132_2153del | ENSP00000222271.2:p.Val711GlyfsTer? | |
| ENST00000425807.1:c.1973_1994del | ENSP00000403792.1:p.Val658GlyfsTer? | |
| ENST00000542601.6:c.2033_2054del | ENSP00000439156.2:p.Val678GlyfsTer? | |
| NM_000095.2:c.2132_2153del | NP_000086.2:p.Val711GlyfsTer? | |
| NM_000095.3:c.2132_2153del MANE Select | NP_000086.2:p.Val711GlyfsTer? |