Canonical Allele Identifier: CA2169205884

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791305_34791307delinsAGT , CM000677.2:g.34791305_34791307delinsAGT	GRCh38
NC_000015.9:g.35083506_35083508delinsAGT , CM000677.1:g.35083506_35083508delinsAGT	GRCh37
NC_000015.8:g.32870798_32870800delinsAGT	NCBI36
NG_007553.1:g.9420_9422delinsACT , LRG_388:g.9420_9422delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1697_1699delinsACT (ACTC1)
ENST00000290378.6:c.809-12_809-10delinsACT (ACTC1) MANE Select	ENSP00000290378.4:n.809-12_809-10delinsACT
ENST00000647798.1:n.903-12_903-10delinsACT (ACTC1)
ENST00000650163.1:n.889-12_889-10delinsACT (ACTC1)
ENST00000290378.4:c.809-12_809-10delinsACT (ACTC1)	ENSP00000290378.4:n.809-12_809-10delinsACT
ENST00000557860.1:n.499-12_499-10delinsACT (ACTC1)
NM_005159.4:c.809-12_809-10delinsACT , LRG_388t1:c.809-12_809-10delinsACT (ACTC1)	NP_005150.1:n.809-12_809-10delinsACT
NR_120329.1:n.299+13874_299+13876delinsAGT (GJD2-DT)
NM_005159.5:c.809-12_809-10delinsACT (ACTC1) MANE Select	NP_005150.1:n.809-12_809-10delinsACT