Canonical Allele Identifier: CA291225765

Gene: MYL4

Linked Data

• dbSNP Id: rs879248251
• gnomAD v2: 17-45299303-T-TG
• gnomAD v3: 17-47221937-T-TG
• gnomAD v4: 17-47221937-T-TG
• MyVariant Identifiers: chr17:g.45299303_45299304insG (hg19) ; chr17:g.47221937_47221938insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47221943dup , CM000679.2:g.47221943dup	GRCh38
NC_000017.10:g.45299309dup , CM000679.1:g.45299309dup	GRCh37
NC_000017.9:g.42654308dup	NCBI36
NG_052847.1:g.17927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354968.5:c.487+88dup	ENSP00000347055.1:n.487+88dup
ENST00000393450.5:c.487+88dup MANE Select	ENSP00000377096.1:n.487+88dup
ENST00000536623.6:c.487+88dup	ENSP00000442375.2:n.487+88dup
ENST00000570671.1:c.198+88dup
ENST00000571981.5:c.*273+88dup	ENSP00000459035.1:n.*273+88dup
ENST00000572316.5:c.487+88dup	ENSP00000461570.1:n.487+88dup
ENST00000573747.6:c.*89+88dup	ENSP00000460734.1:n.*89+88dup
ENST00000576874.5:c.487+88dup	ENSP00000458907.1:n.487+88dup
NM_001002841.1:c.487+88dup	NP_001002841.1:n.487+88dup
NM_002476.2:c.487+88dup MANE Select	NP_002467.1:n.487+88dup
XM_005257391.3:c.487+88dup	XP_005257448.1:n.487+88dup
XM_011524838.1:c.487+88dup	XP_011523140.1:n.487+88dup
XM_011524839.1:c.277+88dup	XP_011523141.1:n.277+88dup
XM_005257391.5:c.487+88dup	XP_005257448.1:n.487+88dup
XM_011524839.2:c.580+88dup	XP_011523141.2:n.580+88dup
XM_017024683.1:c.580+88dup	XP_016880172.1:n.580+88dup
XM_024450766.1:c.580+88dup	XP_024306534.1:n.580+88dup
NM_001002841.2:c.487+88dup	NP_001002841.1:n.487+88dup