Canonical Allele Identifier: CA2627663422
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34794529-TGCTTGCCTTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794535_34794544del , CM000677.2:g.34794535_34794544del GRCh38
NC_000015.9:g.35086736_35086745del , CM000677.1:g.35086736_35086745del GRCh37
NC_000015.8:g.32874028_32874037del NCBI36
NG_007553.1:g.6188_6197del , LRG_388:g.6188_6197del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.235+141_235+150del (ACTC1)
ENST00000290378.6:c.129+141_129+150del (ACTC1) MANE Select ENSP00000290378.4:n.129+141_129+150del
ENST00000290378.4:c.129+141_129+150del (ACTC1) ENSP00000290378.4:n.129+141_129+150del
NM_005159.4:c.129+141_129+150del , LRG_388t1:c.129+141_129+150del (ACTC1) NP_005150.1:n.129+141_129+150del
NR_120329.1:n.300-15961_300-15952del (GJD2-DT)
NM_005159.5:c.129+141_129+150del (ACTC1) MANE Select NP_005150.1:n.129+141_129+150del
Search 100 bp 5'
Search 100 bp 3'