Canonical Allele Identifier: CA2627661922
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

gnomAD v4: 15-34790207-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790212del , CM000677.2:g.34790212del GRCh38
NC_000015.9:g.35082413del , CM000677.1:g.35082413del GRCh37
NC_000015.8:g.32869705del NCBI36
NG_007553.1:g.10519del , LRG_388:g.10519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.2238del (ACTC1)
ENST00000290378.4:c.*204del (ACTC1) ENSP00000290378.4:n.*204del
NM_005159.4:c.*204del , LRG_388t1:c.*204del (ACTC1) NP_005150.1:n.*204del
NR_120329.1:n.299+12781del (GJD2-DT)
Search 100 bp 5'
Search 100 bp 3'