Canonical Allele Identifier: CA7568459

Gene: MYO5A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.52364536_52364537del , CM000677.2:g.52364536_52364537del	GRCh38
NC_000015.9:g.52656733_52656734del , CM000677.1:g.52656733_52656734del	GRCh37
NC_000015.8:g.50444025_50444026del	NCBI36
NG_009887.1:g.169515_169516del , LRG_86:g.169515_169516del

Transcript Alleles

HGVS	Amino-acid Change
NM_001382347.1:c.3309+18_3309+19del MANE Select	NP_001369276.1:n.3309+18_3309+19del
ENST00000399233.7:c.3309+18_3309+19del MANE Select	ENSP00000382179.4:n.3309+18_3309+19del
NM_000259.3:c.3309+18_3309+19del , LRG_86t1:c.3309+18_3309+19del	NP_000250.3:n.3309+18_3309+19del
NM_001142495.1:c.3309+18_3309+19del	NP_001135967.1:n.3309+18_3309+19del
NM_001142495.2:c.3309+18_3309+19del	NP_001135967.2:n.3309+18_3309+19del
NM_001382348.1:c.3381+18_3381+19del	NP_001369277.1:n.3381+18_3381+19del
NM_001382349.1:c.3381+18_3381+19del	NP_001369278.1:n.3381+18_3381+19del
ENST00000356338.10:c.3309+18_3309+19del	ENSP00000348693.6:n.3309+18_3309+19del
ENST00000356338.11:c.3309+18_3309+19del	ENSP00000348693.7:n.3309+18_3309+19del
ENST00000358212.10:c.3309+18_3309+19del	ENSP00000350945.7:n.3309+18_3309+19del
ENST00000399231.7:c.3309+18_3309+19del	ENSP00000382177.3:n.3309+18_3309+19del
ENST00000399231.8:c.3309+18_3309+19del	ENSP00000382177.3:n.3309+18_3309+19del
ENST00000399233.6:c.3309+18_3309+19del	ENSP00000382179.3:n.3309+18_3309+19del
ENST00000553916.5:c.3309+18_3309+19del	ENSP00000451109.1:n.3309+18_3309+19del
ENST00000553916.6:c.3201+18_3201+19del	ENSP00000451109.2:n.3201+18_3201+19del
ENST00000556196.6:c.*2993+18_*2993+19del	ENSP00000451178.1:n.*2993+18_*2993+19del
ENST00000613858.4:c.3309+18_3309+19del	ENSP00000481420.1:n.3309+18_3309+19del
ENST00000685053.1:c.3309+18_3309+19del	ENSP00000510081.1:n.3309+18_3309+19del
ENST00000685194.1:c.945+18_945+19del	ENSP00000509314.1:n.945+18_945+19del
ENST00000685996.1:c.1101+18_1101+19del	ENSP00000509305.1:n.1101+18_1101+19del
ENST00000687574.1:c.3309+18_3309+19del	ENSP00000510312.1:n.3309+18_3309+19del
ENST00000688010.1:n.3057+18_3057+19del
ENST00000688074.1:c.945+18_945+19del	ENSP00000509404.1:n.945+18_945+19del
ENST00000688792.1:n.1452+18_1452+19del
ENST00000688841.1:c.1101+18_1101+19del	ENSP00000508514.1:n.1101+18_1101+19del
ENST00000689601.1:n.2333+18_2333+19del
ENST00000689897.1:c.1098+21_1098+22del	ENSP00000509082.1:n.1098+21_1098+22del
ENST00000691448.1:c.1101+18_1101+19del	ENSP00000508899.1:n.1101+18_1101+19del
ENST00000692556.1:c.3309+18_3309+19del	ENSP00000510378.1:n.3309+18_3309+19del
ENST00000692646.1:c.945+18_945+19del	ENSP00000510243.1:n.945+18_945+19del
XM_005254397.2:c.3309+18_3309+19del	XP_005254454.1:n.3309+18_3309+19del
XM_005254397.4:c.3309+18_3309+19del	XP_005254454.1:n.3309+18_3309+19del
XM_005254398.3:c.3309+18_3309+19del	XP_005254455.1:n.3309+18_3309+19del
XM_011521606.1:c.3315+18_3315+19del	XP_011519908.1:n.3315+18_3315+19del
XM_011521606.2:c.3381+18_3381+19del	XP_011519908.2:n.3381+18_3381+19del
XM_011521607.1:c.3315+18_3315+19del	XP_011519909.1:n.3315+18_3315+19del
XM_011521607.3:c.3381+18_3381+19del	XP_011519909.2:n.3381+18_3381+19del
XM_011521608.1:c.3315+18_3315+19del	XP_011519910.1:n.3315+18_3315+19del
XM_011521608.3:c.3381+18_3381+19del	XP_011519910.2:n.3381+18_3381+19del
XM_011521609.1:c.3315+18_3315+19del	XP_011519911.1:n.3315+18_3315+19del
XM_011521609.3:c.3381+18_3381+19del	XP_011519911.2:n.3381+18_3381+19del
XM_011521610.1:c.3315+18_3315+19del	XP_011519912.1:n.3315+18_3315+19del
XM_011521610.3:c.3381+18_3381+19del	XP_011519912.2:n.3381+18_3381+19del
XM_011521611.1:c.3315+18_3315+19del	XP_011519913.1:n.3315+18_3315+19del
XM_011521611.3:c.3381+18_3381+19del	XP_011519913.2:n.3381+18_3381+19del
XM_011521612.1:c.3315+18_3315+19del	XP_011519914.1:n.3315+18_3315+19del
XM_011521612.3:c.3381+18_3381+19del	XP_011519914.2:n.3381+18_3381+19del
XM_017022227.2:c.3273+18_3273+19del	XP_016877716.1:n.3273+18_3273+19del