Canonical Allele Identifier: CA568152449

Gene: MYO6

Linked Data

• dbSNP Id: rs1357617074
• gnomAD v2: 6-76623835-CCGACAGCAA-C
• gnomAD v4: 6-75914118-CCGACAGCAA-C
• MyVariant Identifiers: chr6:g.76623836_76623844del (hg19) ; chr6:g.75914119_75914127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914121_75914129del , CM000668.2:g.75914121_75914129del	GRCh38
NC_000006.11:g.76623838_76623846del , CM000668.1:g.76623838_76623846del	GRCh37
NC_000006.10:g.76680558_76680566del	NCBI36
NG_009934.1:g.169930_169938del
NG_009934.2:g.169929_169937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369975.6:c.3402_3410del	ENSP00000358992.1:p.Gln1135_Arg1137del
ENST00000369977.8:c.3498_3506del MANE Select	ENSP00000358994.3:p.Gln1167_Arg1169del
ENST00000369985.9:c.3429_3437del	ENSP00000359002.3:p.Gln1144_Arg1146del
ENST00000664640.1:c.3525_3533del	ENSP00000499278.1:p.Gln1176_Arg1178del
ENST00000671923.1:c.*1509_*1517del	ENSP00000500835.1:n.*1509_*1517del
ENST00000672093.1:c.3498_3506del	ENSP00000500710.1:p.Gln1167_Arg1169del
ENST00000672162.1:n.1664_1672del
ENST00000369975.5:c.3402_3410del	ENSP00000358992.1:p.Gln1135_Arg1137del
ENST00000369977.7:c.3498_3506del	ENSP00000358994.3:p.Gln1167_Arg1169del
ENST00000369981.7:c.3528_3536del	ENSP00000358998.4:p.Gln1177_Arg1179del
ENST00000369985.8:c.3429_3437del	ENSP00000359002.3:p.Gln1144_Arg1146del
ENST00000615563.4:c.3429_3437del	ENSP00000478013.1:p.Gln1144_Arg1146del
ENST00000627432.2:c.3525_3533del	ENSP00000487348.1:p.Gln1176_Arg1178del
NM_001300899.1:c.3429_3437del	NP_001287828.1:p.Gln1144_Arg1146del
NM_004999.3:c.3498_3506del	NP_004990.3:p.Gln1167_Arg1169del
XM_005248719.2:c.3525_3533del	XP_005248776.1:p.Gln1176_Arg1178del
XM_005248720.2:c.3498_3506del	XP_005248777.1:p.Gln1167_Arg1169del
XM_005248721.2:c.3486_3494del	XP_005248778.1:p.Gln1163_Arg1165del
XM_005248722.2:c.3471_3479del	XP_005248779.1:p.Gln1158_Arg1160del
XM_005248724.2:c.3459_3467del	XP_005248781.1:p.Gln1154_Arg1156del
XM_005248726.2:c.3402_3410del	XP_005248783.1:p.Gln1135_Arg1137del
XM_005248719.4:c.3525_3533del	XP_005248776.1:p.Gln1176_Arg1178del
XM_005248720.4:c.3498_3506del	XP_005248777.1:p.Gln1167_Arg1169del
XM_005248721.4:c.3486_3494del	XP_005248778.1:p.Gln1163_Arg1165del
XM_005248722.4:c.3471_3479del	XP_005248779.1:p.Gln1158_Arg1160del
XM_005248724.4:c.3459_3467del	XP_005248781.1:p.Gln1154_Arg1156del
XM_005248726.4:c.3402_3410del	XP_005248783.1:p.Gln1135_Arg1137del
XM_017010899.2:c.3432_3440del	XP_016866388.1:p.Gln1145_Arg1147del
XM_024446447.1:c.3525_3533del	XP_024302215.1:p.Gln1176_Arg1178del
XM_024446448.1:c.3459_3467del	XP_024302216.1:p.Gln1154_Arg1156del
NM_004999.4:c.3498_3506del MANE Select	NP_004990.3:p.Gln1167_Arg1169del
NM_001300899.2:c.3429_3437del	NP_001287828.1:p.Gln1144_Arg1146del
NM_001368136.1:c.3402_3410del	NP_001355065.1:p.Gln1135_Arg1137del
NM_001368137.1:c.3459_3467del	NP_001355066.1:p.Gln1154_Arg1156del
NM_001368138.1:c.3414_3422del	NP_001355067.1:p.Gln1139_Arg1141del
NM_001368865.1:c.3525_3533del	NP_001355794.1:p.Gln1176_Arg1178del
NM_001368866.1:c.3498_3506del	NP_001355795.1:p.Gln1167_Arg1169del
NR_160538.1:n.3727_3735del