Canonical Allele Identifier: CA2578963805

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647160-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647161_100647162insGG , CM000669.2:g.100647161_100647162insGG	GRCh38
NC_000007.13:g.100244784_100244785insGG , CM000669.1:g.100244784_100244785insGG	GRCh37
NC_000007.12:g.100082720_100082721insGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.821+62_821+63insCC MANE Select	ENSP00000160382.5:n.821+62_821+63insCC
ENST00000160382.9:c.821+62_821+63insCC	ENSP00000160382.5:n.821+62_821+63insCC
ENST00000487125.1:n.358-50_358-49insCC
NM_016188.4:c.821+62_821+63insCC	NP_057272.1:n.821+62_821+63insCC
XR_927476.1:n.928+62_928+63insCC
NR_134539.1:n.928+62_928+63insCC
NM_016188.5:c.821+62_821+63insCC MANE Select	NP_057272.1:n.821+62_821+63insCC
NR_134539.2:n.915+62_915+63insCC