Canonical Allele Identifier: CA828153508

Gene: MYO6

Linked Data

• dbSNP Id: rs1376448397
• gnomAD v3: 6-75914469-AAATTATG-A
• gnomAD v4: 6-75914469-AAATTATG-A
• MyVariant Identifiers: chr6:g.76624187_76624193del (hg19) ; chr6:g.75914470_75914476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914470_75914476del , CM000668.2:g.75914470_75914476del	GRCh38
NC_000006.11:g.76624187_76624193del , CM000668.1:g.76624187_76624193del	GRCh37
NC_000006.10:g.76680907_76680913del	NCBI36
NG_009934.1:g.170279_170285del
NG_009934.2:g.170278_170284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3562+189_3562+195del	ENSP00000358992.1:n.3562+189_3562+195del
ENST00000369977.8:c.3658+189_3658+195del MANE Select	ENSP00000358994.3:n.3658+189_3658+195del
ENST00000369985.9:c.3589+189_3589+195del	ENSP00000359002.3:n.3589+189_3589+195del
ENST00000664640.1:c.3685+189_3685+195del	ENSP00000499278.1:n.3685+189_3685+195del
ENST00000671923.1:c.*1669+189_*1669+195del	ENSP00000500835.1:n.*1669+189_*1669+195del
ENST00000672093.1:c.3658+189_3658+195del	ENSP00000500710.1:n.3658+189_3658+195del
ENST00000672162.1:n.1824+189_1824+195del
ENST00000369975.5:c.3562+189_3562+195del	ENSP00000358992.1:n.3562+189_3562+195del
ENST00000369977.7:c.3658+189_3658+195del	ENSP00000358994.3:n.3658+189_3658+195del
ENST00000369981.7:c.3688+189_3688+195del	ENSP00000358998.4:n.3688+189_3688+195del
ENST00000369985.8:c.3589+189_3589+195del	ENSP00000359002.3:n.3589+189_3589+195del
ENST00000615563.4:c.3589+189_3589+195del	ENSP00000478013.1:n.3589+189_3589+195del
ENST00000627432.2:c.3685+189_3685+195del	ENSP00000487348.1:n.3685+189_3685+195del
NM_001300899.1:c.3589+189_3589+195del	NP_001287828.1:n.3589+189_3589+195del
NM_004999.3:c.3658+189_3658+195del	NP_004990.3:n.3658+189_3658+195del
XM_005248719.2:c.3685+189_3685+195del	XP_005248776.1:n.3685+189_3685+195del
XM_005248720.2:c.3658+189_3658+195del	XP_005248777.1:n.3658+189_3658+195del
XM_005248721.2:c.3646+189_3646+195del	XP_005248778.1:n.3646+189_3646+195del
XM_005248722.2:c.3631+189_3631+195del	XP_005248779.1:n.3631+189_3631+195del
XM_005248724.2:c.3619+189_3619+195del	XP_005248781.1:n.3619+189_3619+195del
XM_005248726.2:c.3562+189_3562+195del	XP_005248783.1:n.3562+189_3562+195del
XM_005248719.4:c.3685+189_3685+195del	XP_005248776.1:n.3685+189_3685+195del
XM_005248720.4:c.3658+189_3658+195del	XP_005248777.1:n.3658+189_3658+195del
XM_005248721.4:c.3646+189_3646+195del	XP_005248778.1:n.3646+189_3646+195del
XM_005248722.4:c.3631+189_3631+195del	XP_005248779.1:n.3631+189_3631+195del
XM_005248724.4:c.3619+189_3619+195del	XP_005248781.1:n.3619+189_3619+195del
XM_005248726.4:c.3562+189_3562+195del	XP_005248783.1:n.3562+189_3562+195del
XM_017010899.2:c.3592+189_3592+195del	XP_016866388.1:n.3592+189_3592+195del
XM_024446447.1:c.3685+189_3685+195del	XP_024302215.1:n.3685+189_3685+195del
XM_024446448.1:c.3619+189_3619+195del	XP_024302216.1:n.3619+189_3619+195del
NM_004999.4:c.3658+189_3658+195del MANE Select	NP_004990.3:n.3658+189_3658+195del
NM_001300899.2:c.3589+189_3589+195del	NP_001287828.1:n.3589+189_3589+195del
NM_001368136.1:c.3562+189_3562+195del	NP_001355065.1:n.3562+189_3562+195del
NM_001368137.1:c.3619+189_3619+195del	NP_001355066.1:n.3619+189_3619+195del
NM_001368138.1:c.3574+189_3574+195del	NP_001355067.1:n.3574+189_3574+195del
NM_001368865.1:c.3685+189_3685+195del	NP_001355794.1:n.3685+189_3685+195del
NM_001368866.1:c.3658+189_3658+195del	NP_001355795.1:n.3658+189_3658+195del
NR_160538.1:n.3887+189_3887+195del