Canonical Allele Identifier: CA2638433047

Gene: MYL4

Linked Data

• gnomAD v4: 17-47221784-T-TGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221785_47221787dup , CM000679.2:g.47221785_47221787dup	GRCh38
NC_000017.10:g.45299151_45299153dup , CM000679.1:g.45299151_45299153dup	GRCh37
NC_000017.9:g.42654150_42654152dup	NCBI36
NG_052847.1:g.17769_17771dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354968.5:c.417_419dup	ENSP00000347055.1:p.Arg140_Val141insArg
ENST00000393450.5:c.417_419dup MANE Select	ENSP00000377096.1:p.Arg140_Val141insArg
ENST00000536623.6:c.417_419dup	ENSP00000442375.2:p.Arg140_Val141insArg
ENST00000570671.1:c.128_130dup
ENST00000570772.5:c.*203_*205dup	ENSP00000458194.1:n.*203_*205dup
ENST00000571981.5:c.*203_*205dup	ENSP00000459035.1:n.*203_*205dup
ENST00000572303.1:c.510_512dup	ENSP00000461747.1:p.Arg171_Val172insArg
ENST00000572316.5:c.417_419dup	ENSP00000461570.1:p.Arg140_Val141insArg
ENST00000573747.6:c.*19_*21dup	ENSP00000460734.1:n.*19_*21dup
ENST00000576874.5:c.417_419dup	ENSP00000458907.1:p.Arg140_Val141insArg
NM_001002841.1:c.417_419dup	NP_001002841.1:p.Arg140_Val141insArg
NM_002476.2:c.417_419dup MANE Select	NP_002467.1:p.Arg140_Val141insArg
XM_005257391.3:c.417_419dup	XP_005257448.1:p.Arg140_Val141insArg
XM_011524838.1:c.417_419dup	XP_011523140.1:p.Arg140_Val141insArg
XM_011524839.1:c.207_209dup	XP_011523141.1:p.Arg70_Val71insArg
XM_005257391.5:c.417_419dup	XP_005257448.1:p.Arg140_Val141insArg
XM_011524839.2:c.510_512dup	XP_011523141.2:p.Arg171_Val172insArg
XM_017024683.1:c.510_512dup	XP_016880172.1:p.Arg171_Val172insArg
XM_024450766.1:c.510_512dup	XP_024306534.1:p.Arg171_Val172insArg
NM_001002841.2:c.417_419dup	NP_001002841.1:p.Arg140_Val141insArg