Canonical Allele Identifier: CA617197023
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1470329488
gnomAD v2: 15-35083541-CACACACACACACAT-C
MyVariant Identifiers: chr15:g.35083542_35083555del (hg19) chr15:g.34791341_34791354del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791341_34791354del , CM000677.2:g.34791341_34791354del GRCh38
NC_000015.9:g.35083542_35083555del , CM000677.1:g.35083542_35083555del GRCh37
NC_000015.8:g.32870834_32870847del NCBI36
NG_007553.1:g.9373_9386del , LRG_388:g.9373_9386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1650_1663del (ACTC1)
ENST00000290378.6:c.809-59_809-46del (ACTC1) MANE Select ENSP00000290378.4:n.809-59_809-46del
ENST00000647798.1:n.903-59_903-46del (ACTC1)
ENST00000650163.1:n.889-59_889-46del (ACTC1)
ENST00000290378.4:c.809-59_809-46del (ACTC1) ENSP00000290378.4:n.809-59_809-46del
ENST00000557860.1:n.499-59_499-46del (ACTC1)
NM_005159.4:c.809-59_809-46del , LRG_388t1:c.809-59_809-46del (ACTC1) NP_005150.1:n.809-59_809-46del
NR_120329.1:n.299+13910_299+13923del (GJD2-DT)
NM_005159.5:c.809-59_809-46del (ACTC1) MANE Select NP_005150.1:n.809-59_809-46del
Search 100 bp 5'
Search 100 bp 3'