Canonical Allele Identifier: CA16617973
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418813
ClinVar RCV Id: RCV000485422 RCV001180610 RCV001851148
dbSNP Id: rs1064793448
gnomAD v4: 3-46859498-AG-A
MyVariant Identifiers: chr3:g.46900989del (hg19) chr3:g.46859499del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859499del , CM000665.2:g.46859499del GRCh38
NC_000003.11:g.46900989del , CM000665.1:g.46900989del GRCh37
NC_000003.10:g.46875993del NCBI36
NG_007555.2:g.27671del , LRG_395:g.27671del

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.457del ENSP00000393455.2:p.Leu153PhefsTer12
ENST00000292327.6:c.457del MANE Select ENSP00000292327.4:p.Leu153PhefsTer12
ENST00000653454.1:c.457del ENSP00000499624.1:p.Leu153PhefsTer12
ENST00000654597.1:c.457del ENSP00000499406.1:p.Leu153PhefsTer12
ENST00000655244.1:n.679del
ENST00000662933.1:c.457del ENSP00000499577.1:p.Leu153PhefsTer12
ENST00000664891.1:n.415del
ENST00000292327.4:c.457del ENSP00000292327.4:p.Leu153PhefsTer12
ENST00000395869.5:c.457del ENSP00000379210.1:p.Leu153PhefsTer12
NM_000258.2:c.457del , LRG_395t1:c.457del NP_000249.1:p.Leu153PhefsTer12
NM_000258.3:c.457del MANE Select NP_000249.1:p.Leu153PhefsTer12
Search 100 bp 5'
Search 100 bp 3'