Canonical Allele Identifier: CA1105051904

Gene: ACTL6B

Linked Data

• dbSNP Id: rs750120089
• gnomAD v3: 7-100647409-AG-A
• gnomAD v4: 7-100647409-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100647415del , CM000669.2:g.100647415del	GRCh38
NC_000007.13:g.100245038del , CM000669.1:g.100245038del	GRCh37
NC_000007.12:g.100082974del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.759+34del MANE Select	ENSP00000160382.5:n.759+34del
ENST00000160382.9:c.759+34del	ENSP00000160382.5:n.759+34del
ENST00000487125.1:n.295+34del
NM_016188.4:c.759+34del	NP_057272.1:n.759+34del
XR_927476.1:n.866+34del
NR_134539.1:n.866+34del
NM_016188.5:c.759+34del MANE Select	NP_057272.1:n.759+34del
NR_134539.2:n.853+34del