Canonical Allele Identifier: CA042888
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs750991515
ExAC: 15:35083533 CACACACACACACACACACA / C
gnomAD v2: 15-35083533-CACACACACACACACACACA-C
gnomAD v4: 15-34791332-CACACACACACACACACACA-C
MyVariant Identifiers: chr15:g.35083534_35083552del (hg19) chr15:g.34791333_34791351del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791333_34791351del , CM000677.2:g.34791333_34791351del GRCh38
NC_000015.9:g.35083534_35083552del , CM000677.1:g.35083534_35083552del GRCh37
NC_000015.8:g.32870826_32870844del NCBI36
NG_007553.1:g.9376_9394del , LRG_388:g.9376_9394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1653_1671del (ACTC1)
ENST00000290378.6:c.809-56_809-38del (ACTC1) MANE Select ENSP00000290378.4:n.809-56_809-38del
ENST00000647798.1:n.903-56_903-38del (ACTC1)
ENST00000650163.1:n.889-56_889-38del (ACTC1)
ENST00000290378.4:c.809-56_809-38del (ACTC1) ENSP00000290378.4:n.809-56_809-38del
ENST00000557860.1:n.499-56_499-38del (ACTC1)
NM_005159.4:c.809-56_809-38del , LRG_388t1:c.809-56_809-38del (ACTC1) NP_005150.1:n.809-56_809-38del
NR_120329.1:n.299+13902_299+13920del (GJD2-DT)
NM_005159.5:c.809-56_809-38del (ACTC1) MANE Select NP_005150.1:n.809-56_809-38del
Search 100 bp 5'
Search 100 bp 3'