Canonical Allele Identifier: CA2359049

Gene: MYL3

Linked Data

• dbSNP Id: rs758091042
• ExAC: 3:46901079 T / TCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA
• MyVariant Identifiers: chr3:g.46901079_46901080insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA (hg19) ; chr3:g.46859589_46859590insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859589_46859590insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA , CM000665.2:g.46859589_46859590insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA	GRCh38
NC_000003.11:g.46901079_46901080insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA , CM000665.1:g.46901079_46901080insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA	GRCh37
NC_000003.10:g.46876083_46876084insCAGGCCTGGGGGGCAACAGAGTGGTTTCTCCCA	NCBI36
NG_007555.2:g.27580_27581insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG , LRG_395:g.27580_27581insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000393455.2:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000292327.6:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG MANE Select	ENSP00000292327.4:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000653454.1:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000499624.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000654597.1:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000499406.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000655244.1:n.588_589insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG
ENST00000662933.1:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000499577.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000664891.1:n.324_325insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG
ENST00000292327.4:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000292327.4:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
ENST00000395869.5:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	ENSP00000379210.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProP...
NM_000258.2:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG , LRG_395t1:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG	NP_000249.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProProGlyL...
NM_000258.3:c.366_367insTGGGAGAAACCACTCTGTTGCCCCCCAGGCCTG MANE Select	NP_000249.1:p.Ser122_Lys123insTrpGluLysProLeuCysCysProProGlyL...