Canonical Allele Identifier: CA658761774
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

PubMed: PMID:28263302
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794285_34794286del , CM000677.2:g.34794285_34794286del GRCh38
NC_000015.9:g.35086486_35086487del , CM000677.1:g.35086486_35086487del GRCh37
NC_000015.8:g.32873778_32873779del NCBI36
NG_007553.1:g.6446_6447del , LRG_388:g.6446_6447del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.235+399_235+400del (ACTC1)
ENST00000290378.6:c.129+399_129+400del (ACTC1) MANE Select ENSP00000290378.4:n.129+399_129+400del
ENST00000290378.4:c.129+399_129+400del (ACTC1) ENSP00000290378.4:n.129+399_129+400del
NM_005159.4:c.129+399_129+400del , LRG_388t1:c.129+399_129+400del (ACTC1) NP_005150.1:n.129+399_129+400del
NR_120329.1:n.300-16211_300-16210del (GJD2-DT)
NM_005159.5:c.129+399_129+400del (ACTC1) MANE Select NP_005150.1:n.129+399_129+400del
Search 100 bp 5'
Search 100 bp 3'