Canonical Allele Identifier: CA2169210606
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891749500

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793448_34793449insAT , CM000677.2:g.34793448_34793449insAT GRCh38
NC_000015.9:g.35085649_35085650insAT , CM000677.1:g.35085649_35085650insAT GRCh37
NC_000015.8:g.32872941_32872942insAT NCBI36
NG_007553.1:g.7278_7279insAT , LRG_388:g.7278_7279insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.356_357insAT (ACTC1)
ENST00000290378.6:c.250_251insAT (ACTC1) MANE Select ENSP00000290378.4:p.Met84AsnfsTer30
ENST00000647798.1:n.397_398insAT (ACTC1)
ENST00000648556.1:n.407_408insAT (ACTC1)
ENST00000650163.1:n.330_331insAT (ACTC1)
ENST00000290378.4:c.250_251insAT (ACTC1) ENSP00000290378.4:p.Met84AsnfsTer30
NM_005159.4:c.250_251insAT , LRG_388t1:c.250_251insAT (ACTC1) NP_005150.1:p.Met84AsnfsTer30
NR_120329.1:n.299+16017_299+16018insAT (GJD2-DT)
NM_005159.5:c.250_251insAT (ACTC1) MANE Select NP_005150.1:p.Met84AsnfsTer30