Canonical Allele Identifier: CA254321

Gene: MYO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57047385_57047387dup , CM000674.2:g.57047385_57047387dup	GRCh38
NC_000012.11:g.57441169_57441171dup , CM000674.1:g.57441169_57441171dup	GRCh37
NC_000012.10:g.55727436_55727438dup	NCBI36
NG_012104.1:g.7724_7726dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005379.4:c.347_349dup MANE Select	NP_005370.1:p.Ser116_Tyr117insSer
ENST00000300119.8:c.347_349dup MANE Select	ENSP00000300119.3:p.Ser116_Tyr117insSer
NM_001256041.1:c.347_349dup	NP_001242970.1:p.Ser116_Tyr117insSer
NM_001256041.2:c.347_349dup	NP_001242970.1:p.Ser116_Tyr117insSer
NM_005379.3:c.347_349dup	NP_005370.1:p.Ser116_Tyr117insSer
ENST00000300119.7:c.347_349dup	ENSP00000300119.3:p.Ser116_Tyr117insSer
ENST00000442789.6:c.347_349dup	ENSP00000393392.2:p.Ser116_Tyr117insSer
ENST00000492945.5:c.-21+2501_-21+2503dup	ENSP00000452229.1:n.-21+2501_-21+2503dup
ENST00000554234.5:c.-93_-91dup	ENSP00000451033.1:n.-93_-91dup
XM_011538373.1:c.347_349dup	XP_011536675.1:p.Ser116_Tyr117insSer
XM_011538373.2:c.347_349dup	XP_011536675.1:p.Ser116_Tyr117insSer