Canonical Allele Identifier: CA2575196596

Gene: MYO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57037627_57037628insCCAGGAAGCT , CM000674.2:g.57037627_57037628insCCAGGAAGCT	GRCh38
NC_000012.11:g.57431411_57431412insCCAGGAAGCT , CM000674.1:g.57431411_57431412insCCAGGAAGCT	GRCh37
NC_000012.10:g.55717678_55717679insCCAGGAAGCT	NCBI36
NG_012104.1:g.17484_17485insCTTCCTGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1977_1978insCTTCCTGGAG MANE Select	ENSP00000300119.3:p.Val660LeufsTer25
ENST00000300119.7:c.1977_1978insCTTCCTGGAG	ENSP00000300119.3:p.Val660LeufsTer25
ENST00000442789.6:c.1977_1978insCTTCCTGGAG	ENSP00000393392.2:p.Val660LeufsTer25
ENST00000554234.5:c.1491_1492insCTTCCTGGAG	ENSP00000451033.1:p.Val498LeufsTer25
NM_001256041.1:c.1977_1978insCTTCCTGGAG	NP_001242970.1:p.Val660LeufsTer25
NM_005379.3:c.1977_1978insCTTCCTGGAG	NP_005370.1:p.Val660LeufsTer25
XM_011538373.1:c.1977_1978insCTTCCTGGAG	XP_011536675.1:p.Val660LeufsTer25
XM_011538373.2:c.1977_1978insCTTCCTGGAG	XP_011536675.1:p.Val660LeufsTer25
NM_005379.4:c.1977_1978insCTTCCTGGAG MANE Select	NP_005370.1:p.Val660LeufsTer25
NM_001256041.2:c.1977_1978insCTTCCTGGAG	NP_001242970.1:p.Val660LeufsTer25