Canonical Allele Identifier: CA2730707618
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs2140432913
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794381del , CM000677.2:g.34794381del GRCh38
NC_000015.9:g.35086582del , CM000677.1:g.35086582del GRCh37
NC_000015.8:g.32873874del NCBI36
NG_007553.1:g.6346del , LRG_388:g.6346del

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.235+299del (ACTC1)
ENST00000290378.6:c.129+299del (ACTC1) MANE Select ENSP00000290378.4:n.129+299del
ENST00000290378.4:c.129+299del (ACTC1) ENSP00000290378.4:n.129+299del
NM_005159.4:c.129+299del , LRG_388t1:c.129+299del (ACTC1) NP_005150.1:n.129+299del
NR_120329.1:n.300-16115del (GJD2-DT)
NM_005159.5:c.129+299del (ACTC1) MANE Select NP_005150.1:n.129+299del
Search 100 bp 5'
Search 100 bp 3'