Canonical Allele Identifier: CA4387036

Gene: ACTL6B

Linked Data

• dbSNP Id: rs760634708
• ExAC: 7:100244132 A / AGGACGGGTGTCCAGGGCTCTGGGG
• gnomAD v2: 7-100244132-A-AGGACGGGTGTCCAGGGCTCTGGGG
• gnomAD v4: 7-100646509-A-AGGACGGGTGTCCAGGGCTCTGGGG
• MyVariant Identifiers: chr7:g.100244132_100244133insGGACGGGTGTCCAGGGCTCTGGGG (hg19) ; chr7:g.100646509_100646510insGGACGGGTGTCCAGGGCTCTGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646532_100646533insGGGACGGGTGTCCAGGGCTCTGGG , CM000669.2:g.100646532_100646533insGGGACGGGTGTCCAGGGCTCTGGG	GRCh38
NC_000007.13:g.100244155_100244156insGGGACGGGTGTCCAGGGCTCTGGG , CM000669.1:g.100244155_100244156insGGGACGGGTGTCCAGGGCTCTGGG	GRCh37
NC_000007.12:g.100082091_100082092insGGGACGGGTGTCCAGGGCTCTGGG	NCBI36
NG_007989.1:g.41_42insCCCCAGAGCCCTGGACACCCGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC MANE Select	ENSP00000160382.5:n.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTC...
ENST00000160382.9:c.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC	ENSP00000160382.5:n.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTC...
ENST00000487125.1:n.675+41_675+42insCCCCAGAGCCCTGGACACCCGTCC
NM_016188.4:c.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC	NP_057272.1:n.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC
XR_927476.1:n.1220+41_1220+42insCCCCAGAGCCCTGGACACCCGTCC
NR_134539.1:n.1220+41_1220+42insCCCCAGAGCCCTGGACACCCGTCC
NM_016188.5:c.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC MANE Select	NP_057272.1:n.1113+41_1113+42insCCCCAGAGCCCTGGACACCCGTCC
NR_134539.2:n.1207+41_1207+42insCCCCAGAGCCCTGGACACCCGTCC