Canonical Allele Identifier: CA712313514
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1370352388
MyVariant Identifiers: chr15:g.35081191_35081192del (hg19) chr15:g.34788990_34788991del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34788992_34788993del , CM000677.2:g.34788992_34788993del GRCh38
NC_000015.9:g.35081193_35081194del , CM000677.1:g.35081193_35081194del GRCh37
NC_000015.8:g.32868485_32868486del NCBI36
NG_007553.1:g.11736_11737del , LRG_388:g.11736_11737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1421_*1422del (ACTC1) ENSP00000290378.4:n.*1421_*1422del
NM_005159.4:c.*1421_*1422del , LRG_388t1:c.*1421_*1422del (ACTC1) NP_005150.1:n.*1421_*1422del
NR_120329.1:n.299+11561_299+11562del (GJD2-DT)
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