Canonical Allele Identifier: CA2684113251

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647176-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647178dup , CM000669.2:g.100647178dup	GRCh38
NC_000007.13:g.100244801dup , CM000669.1:g.100244801dup	GRCh37
NC_000007.12:g.100082737dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.821+46dup MANE Select	ENSP00000160382.5:n.821+46dup
ENST00000160382.9:c.821+46dup	ENSP00000160382.5:n.821+46dup
ENST00000487125.1:n.357+46dup
NM_016188.4:c.821+46dup	NP_057272.1:n.821+46dup
XR_927476.1:n.928+46dup
NR_134539.1:n.928+46dup
NM_016188.5:c.821+46dup MANE Select	NP_057272.1:n.821+46dup
NR_134539.2:n.915+46dup