Canonical Allele Identifier: CA4387164

Gene: ACTL6B

Linked Data

• dbSNP Id: rs767026063
• ExAC: 7:100245016 CG / C
• gnomAD v2: 7-100245016-CG-C
• gnomAD v4: 7-100647393-CG-C
• MyVariant Identifiers: chr7:g.100245017del (hg19) ; chr7:g.100647394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647394del , CM000669.2:g.100647394del	GRCh38
NC_000007.13:g.100245017del , CM000669.1:g.100245017del	GRCh37
NC_000007.12:g.100082953del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+50del MANE Select	ENSP00000160382.5:n.759+50del
ENST00000160382.9:c.759+50del	ENSP00000160382.5:n.759+50del
ENST00000487125.1:n.295+50del
NM_016188.4:c.759+50del	NP_057272.1:n.759+50del
XR_927476.1:n.866+50del
NR_134539.1:n.866+50del
NM_016188.5:c.759+50del MANE Select	NP_057272.1:n.759+50del
NR_134539.2:n.853+50del