Canonical Allele Identifier: CA4387042

Gene: ACTL6B

Linked Data

• dbSNP Id: rs747549389
• ExAC: 7:100244157 CA / C
• gnomAD v2: 7-100244157-CA-C
• gnomAD v3: 7-100646534-CA-C
• gnomAD v4: 7-100646534-CA-C
• MyVariant Identifiers: chr7:g.100244158del (hg19) ; chr7:g.100646535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646535del , CM000669.2:g.100646535del	GRCh38
NC_000007.13:g.100244158del , CM000669.1:g.100244158del	GRCh37
NC_000007.12:g.100082094del	NCBI36
NG_007989.1:g.16del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1113+16del MANE Select	ENSP00000160382.5:n.1113+16del
ENST00000160382.9:c.1113+16del	ENSP00000160382.5:n.1113+16del
ENST00000487125.1:n.675+16del
NM_016188.4:c.1113+16del	NP_057272.1:n.1113+16del
XR_927476.1:n.1220+16del
NR_134539.1:n.1220+16del
NM_016188.5:c.1113+16del MANE Select	NP_057272.1:n.1113+16del
NR_134539.2:n.1207+16del