Canonical Allele Identifier: CA2627661537
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34789555_34789560del , CM000677.2:g.34789555_34789560del GRCh38
NC_000015.9:g.35081756_35081761del , CM000677.1:g.35081756_35081761del GRCh37
NC_000015.8:g.32869048_32869053del NCBI36
NG_007553.1:g.11169_11174del , LRG_388:g.11169_11174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290378.4:c.*854_*859del (ACTC1) ENSP00000290378.4:n.*854_*859del
NM_005159.4:c.*854_*859del , LRG_388t1:c.*854_*859del (ACTC1) NP_005150.1:n.*854_*859del
NR_120329.1:n.299+12124_299+12129del (GJD2-DT)