Canonical Allele Identifier: CA760602111

Gene: MYO3B

Linked Data

• dbSNP Id: rs1235201097
• MyVariant Identifiers: chr2:g.171365869_171365874del (hg19) ; chr2:g.170509359_170509364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170509369_170509374del , CM000664.2:g.170509369_170509374del	GRCh38
NC_000002.11:g.171365879_171365884del , CM000664.1:g.171365879_171365884del	GRCh37
NC_000002.10:g.171074125_171074130del	NCBI36
NG_034020.1:g.336225_336230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000408978.9:c.3371-5552_3371-5547del MANE Select	ENSP00000386213.4:n.3371-5552_3371-5547del
ENST00000317935.10:c.3290-5552_3290-5547del	ENSP00000314650.6:n.3290-5552_3290-5547del
ENST00000408978.8:c.3371-5552_3371-5547del	ENSP00000386213.4:n.3371-5552_3371-5547del
ENST00000409044.7:c.3290-5552_3290-5547del	ENSP00000386497.3:n.3290-5552_3290-5547del
ENST00000409940.6:n.3514-5552_3514-5547del
ENST00000438642.6:n.3514-5552_3514-5547del
ENST00000602629.1:n.2599-5552_2599-5547del
NM_001083615.3:c.3290-5552_3290-5547del	NP_001077084.2:n.3290-5552_3290-5547del
NM_138995.4:c.3371-5552_3371-5547del	NP_620482.3:n.3371-5552_3371-5547del
NR_045682.1:n.3514-5552_3514-5547del
NR_045683.1:n.3514-5552_3514-5547del
NR_045684.1:n.3433-5552_3433-5547del
XM_006712299.2:c.3398-5552_3398-5547del	XP_006712362.1:n.3398-5552_3398-5547del
XM_011510654.1:c.3398-5552_3398-5547del	XP_011508956.1:n.3398-5552_3398-5547del
XM_011510655.1:c.3317-5552_3317-5547del	XP_011508957.1:n.3317-5552_3317-5547del
XM_011510656.1:c.2705-5552_2705-5547del	XP_011508958.1:n.2705-5552_2705-5547del
XM_011510657.1:c.2390-5552_2390-5547del	XP_011508959.1:n.2390-5552_2390-5547del
XM_011510658.1:c.2390-5552_2390-5547del	XP_011508960.1:n.2390-5552_2390-5547del
XM_006712299.4:c.3398-5552_3398-5547del	XP_006712362.1:n.3398-5552_3398-5547del
XM_011510654.3:c.3398-5552_3398-5547del	XP_011508956.1:n.3398-5552_3398-5547del
XM_011510655.3:c.3317-5552_3317-5547del	XP_011508957.1:n.3317-5552_3317-5547del
XM_011510656.3:c.2705-5552_2705-5547del	XP_011508958.1:n.2705-5552_2705-5547del
XM_011510657.3:c.2390-5552_2390-5547del	XP_011508959.1:n.2390-5552_2390-5547del
XM_011510658.3:c.2390-5552_2390-5547del	XP_011508960.1:n.2390-5552_2390-5547del
XM_024452713.1:c.2390-5552_2390-5547del	XP_024308481.1:n.2390-5552_2390-5547del
NM_001083615.4:c.3290-5552_3290-5547del	NP_001077084.2:n.3290-5552_3290-5547del
NM_138995.5:c.3371-5552_3371-5547del MANE Select	NP_620482.3:n.3371-5552_3371-5547del
NR_045682.2:n.3512-5552_3512-5547del
NR_045683.2:n.3512-5552_3512-5547del
NR_045684.2:n.3431-5552_3431-5547del