Canonical Allele Identifier: CA4387060

Gene: ACTL6B

Linked Data

• dbSNP Id: rs775512144
• ExAC: 7:100244281 GAGA / G
• gnomAD v2: 7-100244281-GAGA-G
• gnomAD v3: 7-100646658-GAGA-G
• gnomAD v4: 7-100646658-GAGA-G
• MyVariant Identifiers: chr7:g.100244282_100244284del (hg19) ; chr7:g.100646660_100646662del (hg38) ; chr7:g.100646659_100646661del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646661_100646663del , CM000669.2:g.100646661_100646663del	GRCh38
NC_000007.13:g.100244284_100244286del , CM000669.1:g.100244284_100244286del	GRCh37
NC_000007.12:g.100082220_100082222del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1018-15_1018-13del MANE Select	ENSP00000160382.5:n.1018-15_1018-13del
ENST00000160382.9:c.1018-15_1018-13del	ENSP00000160382.5:n.1018-15_1018-13del
ENST00000487125.1:n.580-15_580-13del
NM_016188.4:c.1018-15_1018-13del	NP_057272.1:n.1018-15_1018-13del
XR_927476.1:n.1125-15_1125-13del
NR_134539.1:n.1125-15_1125-13del
NM_016188.5:c.1018-15_1018-13del MANE Select	NP_057272.1:n.1018-15_1018-13del
NR_134539.2:n.1112-15_1112-13del