Canonical Allele Identifier: CA918086069

Gene: ACTL6B

Linked Data

• dbSNP Id: rs1562847991

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646540_100646541del , CM000669.2:g.100646540_100646541del	GRCh38
NC_000007.13:g.100244163_100244164del , CM000669.1:g.100244163_100244164del	GRCh37
NC_000007.12:g.100082099_100082100del	NCBI36
NG_007989.1:g.11_12del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+11_1113+12del MANE Select	ENSP00000160382.5:n.1113+11_1113+12del
ENST00000160382.9:c.1113+11_1113+12del	ENSP00000160382.5:n.1113+11_1113+12del
ENST00000487125.1:n.675+11_675+12del
NM_016188.4:c.1113+11_1113+12del	NP_057272.1:n.1113+11_1113+12del
XR_927476.1:n.1220+11_1220+12del
NR_134539.1:n.1220+11_1220+12del
NM_016188.5:c.1113+11_1113+12del MANE Select	NP_057272.1:n.1113+11_1113+12del
NR_134539.2:n.1207+11_1207+12del