Canonical Allele Identifier: CA2684113426

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647331-GCACCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647332_100647338del , CM000669.2:g.100647332_100647338del	GRCh38
NC_000007.13:g.100244955_100244961del , CM000669.1:g.100244955_100244961del	GRCh37
NC_000007.12:g.100082891_100082897del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.760-54_760-48del MANE Select	ENSP00000160382.5:n.760-54_760-48del
ENST00000160382.9:c.760-54_760-48del	ENSP00000160382.5:n.760-54_760-48del
ENST00000487125.1:n.296-54_296-48del
NM_016188.4:c.760-54_760-48del	NP_057272.1:n.760-54_760-48del
XR_927476.1:n.867-54_867-48del
NR_134539.1:n.867-54_867-48del
NM_016188.5:c.760-54_760-48del MANE Select	NP_057272.1:n.760-54_760-48del
NR_134539.2:n.854-54_854-48del