Canonical Allele Identifier: CA2684113191

Gene: ACTL6B

Linked Data

• gnomAD v4: 7-100647161-G-GGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647161_100647162insGCCC , CM000669.2:g.100647161_100647162insGCCC	GRCh38
NC_000007.13:g.100244784_100244785insGCCC , CM000669.1:g.100244784_100244785insGCCC	GRCh37
NC_000007.12:g.100082720_100082721insGCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.821+61_821+62insGGGC MANE Select	ENSP00000160382.5:n.821+61_821+62insGGGC
ENST00000160382.9:c.821+61_821+62insGGGC	ENSP00000160382.5:n.821+61_821+62insGGGC
ENST00000487125.1:n.358-51_358-50insGGGC
NM_016188.4:c.821+61_821+62insGGGC	NP_057272.1:n.821+61_821+62insGGGC
XR_927476.1:n.928+61_928+62insGGGC
NR_134539.1:n.928+61_928+62insGGGC
NM_016188.5:c.821+61_821+62insGGGC MANE Select	NP_057272.1:n.821+61_821+62insGGGC
NR_134539.2:n.915+61_915+62insGGGC