Canonical Allele Identifier: CA4387148
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs751280377
ExAC: 7:100244894 T / TCATGGATCA
gnomAD v2: 7-100244894-T-TCATGGATCA
gnomAD v4: 7-100647271-T-TCATGGATCA
MyVariant Identifiers: chr7:g.100244894_100244895insCATGGATCA (hg19) chr7:g.100647271_100647272insCATGGATCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647272_100647273insATGGATCAC , CM000669.2:g.100647272_100647273insATGGATCAC GRCh38
NC_000007.13:g.100244895_100244896insATGGATCAC , CM000669.1:g.100244895_100244896insATGGATCAC GRCh37
NC_000007.12:g.100082831_100082832insATGGATCAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.772_773insTGATCCATG MANE Select ENSP00000160382.5:p.Gln257_Asp258insValIleHis
ENST00000160382.9:c.772_773insTGATCCATG ENSP00000160382.5:p.Gln257_Asp258insValIleHis
ENST00000487125.1:n.308_309insTGATCCATG
NM_016188.4:c.772_773insTGATCCATG NP_057272.1:p.Gln257_Asp258insValIleHis
XR_927476.1:n.879_880insTGATCCATG
NR_134539.1:n.879_880insTGATCCATG
NM_016188.5:c.772_773insTGATCCATG MANE Select NP_057272.1:p.Gln257_Asp258insValIleHis
NR_134539.2:n.866_867insTGATCCATG
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