Canonical Allele Identifier: CA576714433
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1584467989
gnomAD v2: 7-100244496-TCCCCCCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACC-T
gnomAD v4: 7-100646873-TCCCCCCAGACCCCTGCAATCCTTCCCAGCCTCCCCCACGCCCCAGGATCCAGGGACTGCAGCCAGCACC-T
MyVariant Identifiers: chr7:g.100244497_100244565del (hg19) chr7:g.100646874_100646942del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646875_100646943del , CM000669.2:g.100646875_100646943del GRCh38
NC_000007.13:g.100244498_100244566del , CM000669.1:g.100244498_100244566del GRCh37
NC_000007.12:g.100082434_100082502del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.936+29_937-43del MANE Select ENSP00000160382.5:n.936+29_937-43del
ENST00000160382.9:c.936+29_937-43del ENSP00000160382.5:n.936+29_937-43del
ENST00000487125.1:n.498+29_499-43del
NM_016188.4:c.936+29_937-43del NP_057272.1:n.936+29_937-43del
XR_927476.1:n.1043+29_1044-43del
NR_134539.1:n.1043+29_1044-43del
NM_016188.5:c.936+29_937-43del MANE Select NP_057272.1:n.936+29_937-43del
NR_134539.2:n.1030+29_1031-43del
Search 100 bp 5'
Search 100 bp 3'