Canonical Allele Identifier: CA2615269390
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77214755_77214768del , CM000673.2:g.77214755_77214768del GRCh38
NC_000011.9:g.76925800_76925813del , CM000673.1:g.76925800_76925813del GRCh37
NC_000011.8:g.76603448_76603461del NCBI36
NG_009086.1:g.91491_91504del
NG_009086.2:g.91510_91523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.*59_*72del MANE Select ENSP00000386331.3:n.*59_*72del
ENST00000670577.1:c.4508_4521del
ENST00000409619.6:c.*59_*72del ENSP00000386635.2:n.*59_*72del
ENST00000409709.7:c.*59_*72del ENSP00000386331.3:n.*59_*72del
ENST00000458169.2:c.4133_4146del ENSP00000417017.2:n.4133_4146del
ENST00000458637.6:c.*59_*72del ENSP00000392185.2:n.*59_*72del
ENST00000481328.7:n.5257_5270del
ENST00000605744.1:n.2221_2234del
NM_000260.3:c.*59_*72del NP_000251.3:n.*59_*72del
NM_001127180.1:c.*59_*72del NP_001120652.1:n.*59_*72del
XM_005274012.2:c.*59_*72del XP_005274069.1:n.*59_*72del
XM_006718561.2:c.*59_*72del XP_006718624.1:n.*59_*72del
XR_949941.1:n.7001_7014del
XM_017017780.1:c.*59_*72del XP_016873269.1:n.*59_*72del
XM_017017784.1:c.*59_*72del XP_016873273.1:n.*59_*72del
XM_017017788.1:c.*59_*72del XP_016873277.1:n.*59_*72del
XR_001747885.1:n.6786_6799del
XR_001747887.1:n.6772_6785del
NM_000260.4:c.*59_*72del MANE Select NP_000251.3:n.*59_*72del
NM_001127180.2:c.*59_*72del NP_001120652.1:n.*59_*72del
NM_001369365.1:c.*59_*72del NP_001356294.1:n.*59_*72del