Canonical Allele Identifier: CA2684113215

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647168-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647169_100647170dup , CM000669.2:g.100647169_100647170dup	GRCh38
NC_000007.13:g.100244792_100244793dup , CM000669.1:g.100244792_100244793dup	GRCh37
NC_000007.12:g.100082728_100082729dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.821+53_821+54dup MANE Select	ENSP00000160382.5:n.821+53_821+54dup
ENST00000160382.9:c.821+53_821+54dup	ENSP00000160382.5:n.821+53_821+54dup
ENST00000487125.1:n.357+53_357+54dup
NM_016188.4:c.821+53_821+54dup	NP_057272.1:n.821+53_821+54dup
XR_927476.1:n.928+53_928+54dup
NR_134539.1:n.928+53_928+54dup
NM_016188.5:c.821+53_821+54dup MANE Select	NP_057272.1:n.821+53_821+54dup
NR_134539.2:n.915+53_915+54dup