Canonical Allele Identifier: CA2038690561

Gene: MYO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041370_57041382delinsCCCTGTGAGCCTG , CM000674.2:g.57041370_57041382delinsCCCTGTGAGCCTG	GRCh38
NC_000012.11:g.57435154_57435166delinsCCCTGTGAGCCTG , CM000674.1:g.57435154_57435166delinsCCCTGTGAGCCTG	GRCh37
NC_000012.10:g.55721421_55721433delinsCCCTGTGAGCCTG	NCBI36
NG_012104.1:g.13728_13740delinsCAGGCTCACAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1164+50_1164+62delinsCAGGCTCACAGGG MANE Select	ENSP00000300119.3:n.1164+50_1164+62delinsCAGGCTCACAGGG
ENST00000300119.7:c.1164+50_1164+62delinsCAGGCTCACAGGG	ENSP00000300119.3:n.1164+50_1164+62delinsCAGGCTCACAGGG
ENST00000442789.6:c.1164+50_1164+62delinsCAGGCTCACAGGG	ENSP00000393392.2:n.1164+50_1164+62delinsCAGGCTCACAGGG
ENST00000554234.5:c.678+50_678+62delinsCAGGCTCACAGGG	ENSP00000451033.1:n.678+50_678+62delinsCAGGCTCACAGGG
NM_001256041.1:c.1164+50_1164+62delinsCAGGCTCACAGGG	NP_001242970.1:n.1164+50_1164+62delinsCAGGCTCACAGGG
NM_005379.3:c.1164+50_1164+62delinsCAGGCTCACAGGG	NP_005370.1:n.1164+50_1164+62delinsCAGGCTCACAGGG
XM_011538373.1:c.1164+50_1164+62delinsCAGGCTCACAGGG	XP_011536675.1:n.1164+50_1164+62delinsCAGGCTCACAGGG
XM_011538373.2:c.1164+50_1164+62delinsCAGGCTCACAGGG	XP_011536675.1:n.1164+50_1164+62delinsCAGGCTCACAGGG
NM_005379.4:c.1164+50_1164+62delinsCAGGCTCACAGGG MANE Select	NP_005370.1:n.1164+50_1164+62delinsCAGGCTCACAGGG
NM_001256041.2:c.1164+50_1164+62delinsCAGGCTCACAGGG	NP_001242970.1:n.1164+50_1164+62delinsCAGGCTCACAGGG