Linked Data
gnomAD v4:
17-10404269-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10404273_10404274del , CM000679.2:g.10404273_10404274del | GRCh38 |
| NC_000017.10:g.10307590_10307591del , CM000679.1:g.10307590_10307591del | GRCh37 |
| NC_000017.9:g.10248315_10248316del | NCBI36 |
| NG_013015.1:g.22680_22681del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403437.2:c.2688+59_2688+60del (MYH8) MANE Select | ENSP00000384330.2:n.2688+59_2688+60del | |
| NM_002472.2:c.2688+59_2688+60del (MYH8) | NP_002463.2:n.2688+59_2688+60del | |
| NR_125367.1:n.77-1875_77-1874del (MYHAS) | ||
| XM_011523873.1:c.2784+59_2784+60del (MYH8) | XP_011522175.1:n.2784+59_2784+60del | |
| XM_011523874.1:c.2784+59_2784+60del (MYH8) | XP_011522176.1:n.2784+59_2784+60del | |
| NM_002472.3:c.2688+59_2688+60del (MYH8) MANE Select | NP_002463.2:n.2688+59_2688+60del |