Canonical Allele Identifier: CA2169212525
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794656_34794657delinsCG , CM000677.2:g.34794656_34794657delinsCG GRCh38
NC_000015.9:g.35086857_35086858delinsCG , CM000677.1:g.35086857_35086858delinsCG GRCh37
NC_000015.8:g.32874149_32874150delinsCG NCBI36
NG_007553.1:g.6070_6071delinsCG , LRG_388:g.6070_6071delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+23_235+24delinsCG (ACTC1)
ENST00000290378.6:c.129+23_129+24delinsCG (ACTC1) MANE Select ENSP00000290378.4:n.129+23_129+24delinsCG...
ENST00000290378.4:c.129+23_129+24delinsCG (ACTC1) ENSP00000290378.4:n.129+23_129+24delinsCG...
NM_005159.4:c.129+23_129+24delinsCG , LRG_388t1:c.129+23_129+24delinsCG (ACTC1) NP_005150.1:n.129+23_129+24delinsCG
NR_120329.1:n.300-15840_300-15839delinsCG (GJD2-DT)
NM_005159.5:c.129+23_129+24delinsCG (ACTC1) MANE Select NP_005150.1:n.129+23_129+24delinsCG