Linked Data
dbSNP Id:
rs121913648
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23416113_23416115del , CM000676.2:g.23416113_23416115del | GRCh38 |
| NC_000014.8:g.23885322_23885324del , CM000676.1:g.23885322_23885324del | GRCh37 |
| NC_000014.7:g.22955162_22955164del | NCBI36 |
| NG_007884.1:g.24555_24557del , LRG_384:g.24555_24557del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.4850_4852del (MYH7) MANE Select | ENSP00000347507.3:p.Lys1617del | |
| ENST00000355349.3:c.4850_4852del (MYH7) | ENSP00000347507.3:p.Lys1617del | |
| NM_000257.3:c.4850_4852del (MYH7) | NP_000248.2:p.Lys1617del | |
| NR_126491.1:n.374_376del (MHRT) | ||
| XM_017021340.1:c.4850_4852del (MYH7) | XP_016876829.1:p.Lys1617del | |
| NM_000257.4:c.4850_4852del (MYH7) MANE Select | NP_000248.2:p.Lys1617del |