Canonical Allele Identifier: CA2684113219

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647169-CAAGAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647170_100647176del , CM000669.2:g.100647170_100647176del	GRCh38
NC_000007.13:g.100244793_100244799del , CM000669.1:g.100244793_100244799del	GRCh37
NC_000007.12:g.100082729_100082735del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.821+47_821+53del MANE Select	ENSP00000160382.5:n.821+47_821+53del
ENST00000160382.9:c.821+47_821+53del	ENSP00000160382.5:n.821+47_821+53del
ENST00000487125.1:n.357+47_357+53del
NM_016188.4:c.821+47_821+53del	NP_057272.1:n.821+47_821+53del
XR_927476.1:n.928+47_928+53del
NR_134539.1:n.928+47_928+53del
NM_016188.5:c.821+47_821+53del MANE Select	NP_057272.1:n.821+47_821+53del
NR_134539.2:n.915+47_915+53del