Canonical Allele Identifier: CA2578963751

Gene: ACTL6B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646532del , CM000669.2:g.100646532del	GRCh38
NC_000007.13:g.100244155del , CM000669.1:g.100244155del	GRCh37
NC_000007.12:g.100082091del	NCBI36
NG_007989.1:g.21del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+21del MANE Select	ENSP00000160382.5:n.1113+21del
ENST00000160382.9:c.1113+21del	ENSP00000160382.5:n.1113+21del
ENST00000487125.1:n.675+21del
NM_016188.4:c.1113+21del	NP_057272.1:n.1113+21del
XR_927476.1:n.1220+21del
NR_134539.1:n.1220+21del
NM_016188.5:c.1113+21del MANE Select	NP_057272.1:n.1113+21del
NR_134539.2:n.1207+21del