Canonical Allele Identifier: CA2825001247

Gene: MYL3

Linked Data

• ClinVar Variation Id: 3074917
• ClinVar RCV Id: RCV004015443

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859639del , CM000665.2:g.46859639del	GRCh38
NC_000003.11:g.46901129del , CM000665.1:g.46901129del	GRCh37
NC_000003.10:g.46876133del	NCBI36
NG_007555.2:g.27532del , LRG_395:g.27532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.318del	ENSP00000393455.2:p.Lys107ArgfsTer2
ENST00000292327.6:c.318del MANE Select	ENSP00000292327.4:p.Lys107ArgfsTer2
ENST00000653454.1:c.318del	ENSP00000499624.1:p.Lys107ArgfsTer2
ENST00000654597.1:c.318del	ENSP00000499406.1:p.Lys107ArgfsTer2
ENST00000655244.1:n.540del
ENST00000662933.1:c.318del	ENSP00000499577.1:p.Lys107ArgfsTer2
ENST00000664891.1:n.276del
ENST00000292327.4:c.318del	ENSP00000292327.4:p.Lys107ArgfsTer2
ENST00000395869.5:c.318del	ENSP00000379210.1:p.Lys107ArgfsTer2
NM_000258.2:c.318del , LRG_395t1:c.318del	NP_000249.1:p.Lys107ArgfsTer2
NM_000258.3:c.318del MANE Select	NP_000249.1:p.Lys107ArgfsTer2