Canonical Allele Identifier: CA2684113507

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647388-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647393del , CM000669.2:g.100647393del	GRCh38
NC_000007.13:g.100245016del , CM000669.1:g.100245016del	GRCh37
NC_000007.12:g.100082952del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+55del MANE Select	ENSP00000160382.5:n.759+55del
ENST00000160382.9:c.759+55del	ENSP00000160382.5:n.759+55del
ENST00000487125.1:n.295+55del
NM_016188.4:c.759+55del	NP_057272.1:n.759+55del
XR_927476.1:n.866+55del
NR_134539.1:n.866+55del
NM_016188.5:c.759+55del MANE Select	NP_057272.1:n.759+55del
NR_134539.2:n.853+55del