Canonical Allele Identifier: CA3897779
Gene: MYO6 HGNC NCBI

Linked Data

dbSNP Id: rs776934691

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75914297_75914298del , CM000668.2:g.75914297_75914298del GRCh38
NC_000006.11:g.76624014_76624015del , CM000668.1:g.76624014_76624015del GRCh37
NC_000006.10:g.76680734_76680735del NCBI36
NG_009934.1:g.170106_170107del
NG_009934.2:g.170105_170106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369975.6:c.3562+16_3562+17del ENSP00000358992.1:n.3562+16_3562+17del
ENST00000369977.8:c.3658+16_3658+17del MANE Select ENSP00000358994.3:n.3658+16_3658+17del
ENST00000369985.9:c.3589+16_3589+17del ENSP00000359002.3:n.3589+16_3589+17del
ENST00000664640.1:c.3685+16_3685+17del ENSP00000499278.1:n.3685+16_3685+17del
ENST00000671923.1:c.*1669+16_*1669+17del ENSP00000500835.1:n.*1669+16_*1669+17del
ENST00000672093.1:c.3658+16_3658+17del ENSP00000500710.1:n.3658+16_3658+17del
ENST00000672162.1:n.1824+16_1824+17del
ENST00000369975.5:c.3562+16_3562+17del ENSP00000358992.1:n.3562+16_3562+17del
ENST00000369977.7:c.3658+16_3658+17del ENSP00000358994.3:n.3658+16_3658+17del
ENST00000369981.7:c.3688+16_3688+17del ENSP00000358998.4:n.3688+16_3688+17del
ENST00000369985.8:c.3589+16_3589+17del ENSP00000359002.3:n.3589+16_3589+17del
ENST00000615563.4:c.3589+16_3589+17del ENSP00000478013.1:n.3589+16_3589+17del
ENST00000627432.2:c.3685+16_3685+17del ENSP00000487348.1:n.3685+16_3685+17del
NM_001300899.1:c.3589+16_3589+17del NP_001287828.1:n.3589+16_3589+17del
NM_004999.3:c.3658+16_3658+17del NP_004990.3:n.3658+16_3658+17del
XM_005248719.2:c.3685+16_3685+17del XP_005248776.1:n.3685+16_3685+17del
XM_005248720.2:c.3658+16_3658+17del XP_005248777.1:n.3658+16_3658+17del
XM_005248721.2:c.3646+16_3646+17del XP_005248778.1:n.3646+16_3646+17del
XM_005248722.2:c.3631+16_3631+17del XP_005248779.1:n.3631+16_3631+17del
XM_005248724.2:c.3619+16_3619+17del XP_005248781.1:n.3619+16_3619+17del
XM_005248726.2:c.3562+16_3562+17del XP_005248783.1:n.3562+16_3562+17del
XM_005248719.4:c.3685+16_3685+17del XP_005248776.1:n.3685+16_3685+17del
XM_005248720.4:c.3658+16_3658+17del XP_005248777.1:n.3658+16_3658+17del
XM_005248721.4:c.3646+16_3646+17del XP_005248778.1:n.3646+16_3646+17del
XM_005248722.4:c.3631+16_3631+17del XP_005248779.1:n.3631+16_3631+17del
XM_005248724.4:c.3619+16_3619+17del XP_005248781.1:n.3619+16_3619+17del
XM_005248726.4:c.3562+16_3562+17del XP_005248783.1:n.3562+16_3562+17del
XM_017010899.2:c.3592+16_3592+17del XP_016866388.1:n.3592+16_3592+17del
XM_024446447.1:c.3685+16_3685+17del XP_024302215.1:n.3685+16_3685+17del
XM_024446448.1:c.3619+16_3619+17del XP_024302216.1:n.3619+16_3619+17del
NM_004999.4:c.3658+16_3658+17del MANE Select NP_004990.3:n.3658+16_3658+17del
NM_001300899.2:c.3589+16_3589+17del NP_001287828.1:n.3589+16_3589+17del
NM_001368136.1:c.3562+16_3562+17del NP_001355065.1:n.3562+16_3562+17del
NM_001368137.1:c.3619+16_3619+17del NP_001355066.1:n.3619+16_3619+17del
NM_001368138.1:c.3574+16_3574+17del NP_001355067.1:n.3574+16_3574+17del
NM_001368865.1:c.3685+16_3685+17del NP_001355794.1:n.3685+16_3685+17del
NM_001368866.1:c.3658+16_3658+17del NP_001355795.1:n.3658+16_3658+17del
NR_160538.1:n.3887+16_3887+17del