Canonical Allele Identifier: CA576714434

Gene: ACTL6B

Linked Data

• gnomAD v2: 7-100244496-T-TC
• gnomAD v4: 7-100646873-T-TC
• MyVariant Identifiers: chr7:g.100244503_100244565delinsCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACC (hg19) ; chr7:g.100646880_100646942delinsCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646879dup , CM000669.2:g.100646879dup	GRCh38
NC_000007.13:g.100244502dup , CM000669.1:g.100244502dup	GRCh37
NC_000007.12:g.100082438dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.937-43dup MANE Select	ENSP00000160382.5:n.937-43dup
ENST00000160382.9:c.937-43dup	ENSP00000160382.5:n.937-43dup
ENST00000487125.1:n.499-43dup
NM_016188.4:c.937-43dup	NP_057272.1:n.937-43dup
XR_927476.1:n.1044-43dup
NR_134539.1:n.1044-43dup
NM_016188.5:c.937-43dup MANE Select	NP_057272.1:n.937-43dup
NR_134539.2:n.1031-43dup