Canonical Allele Identifier: CA2665478655

Gene: MYL3

Linked Data

• gnomAD v4: 3-46860747-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860748del , CM000665.2:g.46860748del	GRCh38
NC_000003.11:g.46902238del , CM000665.1:g.46902238del	GRCh37
NC_000003.10:g.46877242del	NCBI36
NG_007555.2:g.26422del , LRG_395:g.26422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.235del	ENSP00000393455.2:p.Val79SerfsTer30
ENST00000292327.6:c.235del MANE Select	ENSP00000292327.4:p.Val79SerfsTer30
ENST00000653454.1:c.235del	ENSP00000499624.1:p.Val79SerfsTer30
ENST00000654597.1:c.235del	ENSP00000499406.1:p.Val79SerfsTer30
ENST00000655244.1:n.457del
ENST00000662933.1:c.235del	ENSP00000499577.1:p.Val79SerfsTer30
ENST00000664891.1:n.193del
ENST00000292327.4:c.235del	ENSP00000292327.4:p.Val79SerfsTer30
ENST00000395869.5:c.235del	ENSP00000379210.1:p.Val79SerfsTer30
NM_000258.2:c.235del , LRG_395t1:c.235del	NP_000249.1:p.Val79SerfsTer30
NM_000258.3:c.235del MANE Select	NP_000249.1:p.Val79SerfsTer30