Canonical Allele Identifier: CA456753061
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1267094407
gnomAD v2: 7-100244458-CAG-C
gnomAD v4: 7-100646835-CAG-C
MyVariant Identifiers: chr7:g.100244459_100244460del (hg19) chr7:g.100646836_100646837del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646842_100646843del , CM000669.2:g.100646842_100646843del GRCh38
NC_000007.13:g.100244465_100244466del , CM000669.1:g.100244465_100244466del GRCh37
NC_000007.12:g.100082401_100082402del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.937-6_937-5del MANE Select ENSP00000160382.5:n.937-6_937-5del
ENST00000160382.9:c.937-6_937-5del ENSP00000160382.5:n.937-6_937-5del
ENST00000487125.1:n.499-6_499-5del
NM_016188.4:c.937-6_937-5del NP_057272.1:n.937-6_937-5del
XR_927476.1:n.1044-6_1044-5del
NR_134539.1:n.1044-6_1044-5del
NM_016188.5:c.937-6_937-5del MANE Select NP_057272.1:n.937-6_937-5del
NR_134539.2:n.1031-6_1031-5del
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