Linked Data
gnomAD v4:
17-43755511-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755512_43755513del , CM000679.2:g.43755512_43755513del | GRCh38 |
| NC_000017.10:g.41832880_41832881del , CM000679.1:g.41832880_41832881del | GRCh37 |
| NC_000017.9:g.39188406_39188407del | NCBI36 |
| NG_008078.2:g.8276_8277del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301691.3:c.471_472del MANE Select | ENSP00000301691.1:p.Lys158GlyfsTer? | |
| ENST00000301691.2:c.471_472del | ENSP00000301691.1:p.Lys158GlyfsTer? | |
| NM_025237.2:c.471_472del | NP_079513.1:p.Lys158GlyfsTer? | |
| NM_025237.3:c.471_472del MANE Select | NP_079513.1:p.Lys158GlyfsTer? |