Canonical Allele Identifier: CA919529400
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1595759318
gnomAD v3: 15-34789103-ATC-A
gnomAD v4: 15-34789103-ATC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789107_34789108del , CM000677.2:g.34789107_34789108del GRCh38
NC_000015.9:g.35081308_35081309del , CM000677.1:g.35081308_35081309del GRCh37
NC_000015.8:g.32868600_32868601del NCBI36
NG_007553.1:g.11622_11623del , LRG_388:g.11622_11623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*1307_*1308del (ACTC1) ENSP00000290378.4:n.*1307_*1308del
NM_005159.4:c.*1307_*1308del , LRG_388t1:c.*1307_*1308del (ACTC1) NP_005150.1:n.*1307_*1308del
NR_120329.1:n.299+11676_299+11677del (GJD2-DT)
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