Canonical Allele Identifier: CA2578963824

Gene: ACTL6B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647369del , CM000669.2:g.100647369del	GRCh38
NC_000007.13:g.100244992del , CM000669.1:g.100244992del	GRCh37
NC_000007.12:g.100082928del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+77del MANE Select	ENSP00000160382.5:n.759+77del
ENST00000160382.9:c.759+77del	ENSP00000160382.5:n.759+77del
ENST00000487125.1:n.295+77del
NM_016188.4:c.759+77del	NP_057272.1:n.759+77del
XR_927476.1:n.866+77del
NR_134539.1:n.866+77del
NM_016188.5:c.759+77del MANE Select	NP_057272.1:n.759+77del
NR_134539.2:n.853+77del