Canonical Allele Identifier: CA2665478655
Gene: MYL3 HGNC NCBI

Linked Data

gnomAD v4: 3-46860747-AC-A
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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
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