Canonical Allele Identifier: CA2169206193

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791347_34791348delinsAC , CM000677.2:g.34791347_34791348delinsAC	GRCh38
NC_000015.9:g.35083548_35083549delinsAC , CM000677.1:g.35083548_35083549delinsAC	GRCh37
NC_000015.8:g.32870840_32870841delinsAC	NCBI36
NG_007553.1:g.9379_9380delinsGT , LRG_388:g.9379_9380delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1656_1657delinsGT (ACTC1)
ENST00000290378.6:c.809-53_809-52delinsGT (ACTC1) MANE Select	ENSP00000290378.4:n.809-53_809-52delinsGT
ENST00000647798.1:n.903-53_903-52delinsGT (ACTC1)
ENST00000650163.1:n.889-53_889-52delinsGT (ACTC1)
ENST00000290378.4:c.809-53_809-52delinsGT (ACTC1)	ENSP00000290378.4:n.809-53_809-52delinsGT
ENST00000557860.1:n.499-53_499-52delinsGT (ACTC1)
NM_005159.4:c.809-53_809-52delinsGT , LRG_388t1:c.809-53_809-52delinsGT (ACTC1)	NP_005150.1:n.809-53_809-52delinsGT
NR_120329.1:n.299+13916_299+13917delinsAC (GJD2-DT)
NM_005159.5:c.809-53_809-52delinsGT (ACTC1) MANE Select	NP_005150.1:n.809-53_809-52delinsGT