Canonical Allele Identifier: CA224843908

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 1219645
• ClinVar RCV Id: RCV001588734
• dbSNP Id: rs143556375
• gnomAD v2: 11-76901240-CGT-C
• gnomAD v3: 11-77190195-CGT-C
• gnomAD v4: 11-77190195-CGT-C
• COSMIC: COSN15664728 ; COSN18735538
• MyVariant Identifiers: chr11:g.76901241_76901242del (hg19) ; chr11:g.77190196_77190197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77190208_77190209del , CM000673.2:g.77190208_77190209del	GRCh38
NC_000011.9:g.76901253_76901254del , CM000673.1:g.76901253_76901254del	GRCh37
NC_000011.8:g.76578901_76578902del	NCBI36
NG_009086.1:g.66944_66945del
NG_009086.2:g.66963_66964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3750+69_3750+70del MANE Select	ENSP00000386331.3:n.3750+69_3750+70del
ENST00000670577.1:c.1591+69_1591+70del
ENST00000409619.6:c.3717+69_3717+70del	ENSP00000386635.2:n.3717+69_3717+70del
ENST00000409709.7:c.3750+69_3750+70del	ENSP00000386331.3:n.3750+69_3750+70del
ENST00000458169.2:c.1293+69_1293+70del	ENSP00000417017.2:n.1293+69_1293+70del
ENST00000458637.6:c.3750+69_3750+70del	ENSP00000392185.2:n.3750+69_3750+70del
ENST00000467137.1:n.277+69_277+70del
ENST00000481328.7:n.1293+69_1293+70del
NM_000260.3:c.3750+69_3750+70del	NP_000251.3:n.3750+69_3750+70del
NM_001127180.1:c.3750+69_3750+70del	NP_001120652.1:n.3750+69_3750+70del
XM_005274012.2:c.3750+69_3750+70del	XP_005274069.1:n.3750+69_3750+70del
XM_006718558.2:c.3750+69_3750+70del	XP_006718621.1:n.3750+69_3750+70del
XM_006718559.2:c.3750+69_3750+70del	XP_006718622.1:n.3750+69_3750+70del
XM_006718560.2:c.3750+69_3750+70del	XP_006718623.1:n.3750+69_3750+70del
XM_006718561.2:c.3750+69_3750+70del	XP_006718624.1:n.3750+69_3750+70del
XM_011545044.1:c.3750+69_3750+70del	XP_011543346.1:n.3750+69_3750+70del
XM_011545045.1:c.3750+69_3750+70del	XP_011543347.1:n.3750+69_3750+70del
XM_011545046.1:c.3717+69_3717+70del	XP_011543348.1:n.3717+69_3717+70del
XM_011545047.1:c.3660+69_3660+70del	XP_011543349.1:n.3660+69_3660+70del
XM_011545048.1:c.3531+69_3531+70del	XP_011543350.1:n.3531+69_3531+70del
XM_011545049.1:c.3519+69_3519+70del	XP_011543351.1:n.3519+69_3519+70del
XM_011545050.1:c.3492+69_3492+70del	XP_011543352.1:n.3492+69_3492+70del
XM_011545051.1:c.3750+69_3750+70del	XP_011543353.1:n.3750+69_3750+70del
XM_011545052.1:c.3750+69_3750+70del	XP_011543354.1:n.3750+69_3750+70del
XR_949938.1:n.4070+69_4070+70del
XR_949941.1:n.4070+69_4070+70del
XR_949942.1:n.4072+69_4072+70del
XR_949943.1:n.4072+69_4072+70del
XM_011545044.2:c.3750+69_3750+70del	XP_011543346.1:n.3750+69_3750+70del
XM_011545046.2:c.3840+69_3840+70del	XP_011543348.2:n.3840+69_3840+70del
XM_011545050.2:c.3492+69_3492+70del	XP_011543352.1:n.3492+69_3492+70del
XM_017017778.1:c.3840+69_3840+70del	XP_016873267.1:n.3840+69_3840+70del
XM_017017779.1:c.3840+69_3840+70del	XP_016873268.1:n.3840+69_3840+70del
XM_017017780.1:c.3840+69_3840+70del	XP_016873269.1:n.3840+69_3840+70del
XM_017017781.1:c.3750+69_3750+70del	XP_016873270.1:n.3750+69_3750+70del
XM_017017782.1:c.3840+69_3840+70del	XP_016873271.1:n.3840+69_3840+70del
XM_017017783.1:c.3840+69_3840+70del	XP_016873272.1:n.3840+69_3840+70del
XM_017017784.1:c.3840+69_3840+70del	XP_016873273.1:n.3840+69_3840+70del
XM_017017785.1:c.3609+69_3609+70del	XP_016873274.1:n.3609+69_3609+70del
XM_017017786.1:c.3840+69_3840+70del	XP_016873275.1:n.3840+69_3840+70del
XM_017017787.1:c.3840+69_3840+70del	XP_016873276.1:n.3840+69_3840+70del
XM_017017788.1:c.3840+69_3840+70del	XP_016873277.1:n.3840+69_3840+70del
XR_001747885.1:n.3855+69_3855+70del
XR_001747886.1:n.3855+69_3855+70del
XR_001747887.1:n.3855+69_3855+70del
XR_001747888.1:n.3855+69_3855+70del
XR_001747889.1:n.3855+69_3855+70del
NM_000260.4:c.3750+69_3750+70del MANE Select	NP_000251.3:n.3750+69_3750+70del
NM_001127180.2:c.3750+69_3750+70del	NP_001120652.1:n.3750+69_3750+70del
NM_001369365.1:c.3717+69_3717+70del	NP_001356294.1:n.3717+69_3717+70del