Canonical Allele Identifier: CA4387074

Gene: ACTL6B

Linked Data

• dbSNP Id: rs764194880
• ExAC: 7:100244335 GGGCCCCTT / G
• gnomAD v2: 7-100244335-GGGCCCCTT-G
• gnomAD v3: 7-100646712-GGGCCCCTT-G
• gnomAD v4: 7-100646712-GGGCCCCTT-G
• MyVariant Identifiers: chr7:g.100244336_100244343del (hg19) ; chr7:g.100646713_100646720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100646713_100646720del , CM000669.2:g.100646713_100646720del	GRCh38
NC_000007.13:g.100244336_100244343del , CM000669.1:g.100244336_100244343del	GRCh37
NC_000007.12:g.100082272_100082279del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000160382.10:c.1017+31_1017+38del MANE Select	ENSP00000160382.5:n.1017+31_1017+38del
ENST00000160382.9:c.1017+31_1017+38del	ENSP00000160382.5:n.1017+31_1017+38del
ENST00000487125.1:n.579+31_579+38del
NM_016188.4:c.1017+31_1017+38del	NP_057272.1:n.1017+31_1017+38del
XR_927476.1:n.1124+31_1124+38del
NR_134539.1:n.1124+31_1124+38del
NM_016188.5:c.1017+31_1017+38del MANE Select	NP_057272.1:n.1017+31_1017+38del
NR_134539.2:n.1111+31_1111+38del