Canonical Allele Identifier: CA2169212383
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794543_34794544delinsTG , CM000677.2:g.34794543_34794544delinsTG GRCh38
NC_000015.9:g.35086744_35086745delinsTG , CM000677.1:g.35086744_35086745delinsTG GRCh37
NC_000015.8:g.32874036_32874037delinsTG NCBI36
NG_007553.1:g.6183_6184delinsCA , LRG_388:g.6183_6184delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+136_235+137delinsCA (ACTC1)
ENST00000290378.6:c.129+136_129+137delinsCA (ACTC1) MANE Select ENSP00000290378.4:n.129+136_129+137delinsCA
ENST00000290378.4:c.129+136_129+137delinsCA (ACTC1) ENSP00000290378.4:n.129+136_129+137delinsCA
NM_005159.4:c.129+136_129+137delinsCA , LRG_388t1:c.129+136_129+137delinsCA (ACTC1) NP_005150.1:n.129+136_129+137delinsCA
NR_120329.1:n.300-15953_300-15952delinsTG (GJD2-DT)
NM_005159.5:c.129+136_129+137delinsCA (ACTC1) MANE Select NP_005150.1:n.129+136_129+137delinsCA
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