Canonical Allele Identifier: CA2578963819
Gene: ACTL6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647353_100647354insG , CM000669.2:g.100647353_100647354insG GRCh38
NC_000007.13:g.100244976_100244977insG , CM000669.1:g.100244976_100244977insG GRCh37
NC_000007.12:g.100082912_100082913insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.760-70_760-69insC MANE Select ENSP00000160382.5:n.760-70_760-69insC
ENST00000160382.9:c.760-70_760-69insC ENSP00000160382.5:n.760-70_760-69insC
ENST00000487125.1:n.296-70_296-69insC
NM_016188.4:c.760-70_760-69insC NP_057272.1:n.760-70_760-69insC
XR_927476.1:n.867-70_867-69insC
NR_134539.1:n.867-70_867-69insC
NM_016188.5:c.760-70_760-69insC MANE Select NP_057272.1:n.760-70_760-69insC
NR_134539.2:n.854-70_854-69insC