Canonical Allele Identifier: CA6640623

Gene: MYO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57048219_57048221del , CM000674.2:g.57048219_57048221del	GRCh38
NC_000012.11:g.57442003_57442005del , CM000674.1:g.57442003_57442005del	GRCh37
NC_000012.10:g.55728270_55728272del	NCBI36
NG_012104.1:g.6889_6891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.103_105del MANE Select	ENSP00000300119.3:p.Lys35del
ENST00000300119.7:c.103_105del	ENSP00000300119.3:p.Lys35del
ENST00000433964.5:c.103_105del	ENSP00000400991.1:p.Lys35del
ENST00000442789.6:c.103_105del	ENSP00000393392.2:p.Lys35del
ENST00000471791.1:n.397_399del
ENST00000492945.5:c.-21+1666_-21+1668del	ENSP00000452229.1:n.-21+1666_-21+1668del
NM_001256041.1:c.103_105del	NP_001242970.1:p.Lys35del
NM_005379.3:c.103_105del	NP_005370.1:p.Lys35del
XM_011538373.1:c.103_105del	XP_011536675.1:p.Lys35del
XM_011538373.2:c.103_105del	XP_011536675.1:p.Lys35del
NM_005379.4:c.103_105del MANE Select	NP_005370.1:p.Lys35del
NM_001256041.2:c.103_105del	NP_001242970.1:p.Lys35del