Canonical Allele Identifier: CA2169206106

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891701293

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791331_34791332insTACACA , CM000677.2:g.34791331_34791332insTACACA	GRCh38
NC_000015.9:g.35083532_35083533insTACACA , CM000677.1:g.35083532_35083533insTACACA	GRCh37
NC_000015.8:g.32870824_32870825insTACACA	NCBI36
NG_007553.1:g.9400_9401insATGTGT , LRG_388:g.9400_9401insATGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1677_1678insATGTGT (ACTC1)
ENST00000290378.6:c.809-32_809-31insATGTGT (ACTC1) MANE Select	ENSP00000290378.4:n.809-32_809-31insATGTGT
ENST00000647798.1:n.903-32_903-31insATGTGT (ACTC1)
ENST00000650163.1:n.889-32_889-31insATGTGT (ACTC1)
ENST00000290378.4:c.809-32_809-31insATGTGT (ACTC1)	ENSP00000290378.4:n.809-32_809-31insATGTGT
ENST00000557860.1:n.499-32_499-31insATGTGT (ACTC1)
NM_005159.4:c.809-32_809-31insATGTGT , LRG_388t1:c.809-32_809-31insATGTGT (ACTC1)	NP_005150.1:n.809-32_809-31insATGTGT
NR_120329.1:n.299+13900_299+13901insTACACA (GJD2-DT)
NM_005159.5:c.809-32_809-31insATGTGT (ACTC1) MANE Select	NP_005150.1:n.809-32_809-31insATGTGT