Canonical Allele Identifier: CA2665478456

Gene: MYL3

Linked Data

• gnomAD v4: 3-46859483-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859484_46859485del , CM000665.2:g.46859484_46859485del	GRCh38
NC_000003.11:g.46900974_46900975del , CM000665.1:g.46900974_46900975del	GRCh37
NC_000003.10:g.46875978_46875979del	NCBI36
NG_007555.2:g.27685_27686del , LRG_395:g.27685_27686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.471_472del	ENSP00000393455.2:p.Ala158HisfsTer4
ENST00000292327.6:c.471_472del MANE Select	ENSP00000292327.4:p.Ala158HisfsTer4
ENST00000653454.1:c.471_472del	ENSP00000499624.1:p.Ala158HisfsTer4
ENST00000654597.1:c.471_472del	ENSP00000499406.1:p.Ala158HisfsTer4
ENST00000655244.1:n.693_694del
ENST00000662933.1:c.471_472del	ENSP00000499577.1:p.Ala158HisfsTer4
ENST00000664891.1:n.429_430del
ENST00000292327.4:c.471_472del	ENSP00000292327.4:p.Ala158HisfsTer4
ENST00000395869.5:c.471_472del	ENSP00000379210.1:p.Ala158HisfsTer4
NM_000258.2:c.471_472del , LRG_395t1:c.471_472del	NP_000249.1:p.Ala158HisfsTer4
NM_000258.3:c.471_472del MANE Select	NP_000249.1:p.Ala158HisfsTer4