Linked Data
ClinVar Variation Id:
161824
ClinVar RCV Id:
RCV000149360
dbSNP Id:
rs193920964
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12763361del , CM000679.2:g.12763361del | GRCh38 |
| NC_000017.10:g.12666678del , CM000679.1:g.12666678del | GRCh37 |
| NC_000017.9:g.12607403del | NCBI36 |
| NG_012972.1:g.102472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425538.6:c.2678del (MYOCD) MANE Select | ENSP00000401678.1:p.Lys893ArgfsTer? | |
| ENST00000343344.8:c.2534del (MYOCD) | ENSP00000341835.4:p.Lys845ArgfsTer? | |
| ENST00000425538.5:c.2678del (MYOCD) | ENSP00000401678.1:p.Lys893ArgfsTer? | |
| ENST00000443061.1:c.1664del (MYOCD) | ENSP00000400148.2:p.Lys555ArgfsTer? | |
| NM_001146312.2:c.2678del (MYOCD) | NP_001139784.1:p.Lys893ArgfsTer? | |
| NM_153604.3:c.2534del (MYOCD) | NP_705832.1:p.Lys845ArgfsTer? | |
| NR_104607.1:n.501del (ARHGAP44-AS1) | ||
| XM_005256863.1:c.2549del (MYOCD) | XP_005256920.1:p.Lys850ArgfsTer? | |
| XM_005256864.1:c.2441del (MYOCD) | XP_005256921.1:p.Lys814ArgfsTer? | |
| XM_017025342.1:c.2552del (MYOCD) | XP_016880831.1:p.Lys851ArgfsTer? | |
| NM_001146312.3:c.2678del (MYOCD) MANE Select | NP_001139784.1:p.Lys893ArgfsTer? | |
| NM_001378306.1:c.2441del (MYOCD) | NP_001365235.1:p.Lys814ArgfsTer? | |
| NM_153604.4:c.2534del (MYOCD) | NP_705832.1:p.Lys845ArgfsTer? |