Canonical Allele Identifier: CA2497214504

Gene: ACTL6B

Linked Data

• dbSNP Id: rs1803844269
• gnomAD v4: 7-100647373-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647377del , CM000669.2:g.100647377del	GRCh38
NC_000007.13:g.100245000del , CM000669.1:g.100245000del	GRCh37
NC_000007.12:g.100082936del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+70del MANE Select	ENSP00000160382.5:n.759+70del
ENST00000160382.9:c.759+70del	ENSP00000160382.5:n.759+70del
ENST00000487125.1:n.295+70del
NM_016188.4:c.759+70del	NP_057272.1:n.759+70del
XR_927476.1:n.866+70del
NR_134539.1:n.866+70del
NM_016188.5:c.759+70del MANE Select	NP_057272.1:n.759+70del
NR_134539.2:n.853+70del