Canonical Allele Identifier: CA907610218

Gene: MYL3

Linked Data

• dbSNP Id: rs1483750740
• MyVariant Identifiers: chr3:g.46901069_46901071del (hg19) ; chr3:g.46859579_46859581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859580_46859582del , CM000665.2:g.46859580_46859582del	GRCh38
NC_000003.11:g.46901070_46901072del , CM000665.1:g.46901070_46901072del	GRCh37
NC_000003.10:g.46876074_46876076del	NCBI36
NG_007555.2:g.27589_27591del , LRG_395:g.27589_27591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.375_377del	ENSP00000393455.2:p.Lys125_Asp126delinsAsn
ENST00000292327.6:c.375_377del MANE Select	ENSP00000292327.4:p.Lys125_Asp126delinsAsn
ENST00000653454.1:c.375_377del	ENSP00000499624.1:p.Lys125_Asp126delinsAsn
ENST00000654597.1:c.375_377del	ENSP00000499406.1:p.Lys125_Asp126delinsAsn
ENST00000655244.1:n.597_599del
ENST00000662933.1:c.375_377del	ENSP00000499577.1:p.Lys125_Asp126delinsAsn
ENST00000664891.1:n.333_335del
ENST00000292327.4:c.375_377del	ENSP00000292327.4:p.Lys125_Asp126delinsAsn
ENST00000395869.5:c.375_377del	ENSP00000379210.1:p.Lys125_Asp126delinsAsn
NM_000258.2:c.375_377del , LRG_395t1:c.375_377del	NP_000249.1:p.Lys125_Asp126delinsAsn
NM_000258.3:c.375_377del MANE Select	NP_000249.1:p.Lys125_Asp126delinsAsn