Canonical Allele Identifier: CA2169207292

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791990_34791993delinsCTTT , CM000677.2:g.34791990_34791993delinsCTTT	GRCh38
NC_000015.9:g.35084191_35084194delinsCTTT , CM000677.1:g.35084191_35084194delinsCTTT	GRCh37
NC_000015.8:g.32871483_32871486delinsCTTT	NCBI36
NG_007553.1:g.8734_8737delinsAAAG , LRG_388:g.8734_8737delinsAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1011_1014delinsAAAG (ACTC1)
ENST00000290378.6:c.808+97_808+100delinsAAAG (ACTC1) MANE Select	ENSP00000290378.4:n.808+97_808+100delinsA...
ENST00000647798.1:n.902+97_902+100delinsAAAG (ACTC1)
ENST00000650163.1:n.888+97_888+100delinsAAAG (ACTC1)
ENST00000290378.4:c.808+97_808+100delinsAAAG (ACTC1)	ENSP00000290378.4:n.808+97_808+100delinsA...
ENST00000557860.1:n.498+97_498+100delinsAAAG (ACTC1)
ENST00000560563.1:n.404_407delinsAAAG (ACTC1)
NM_005159.4:c.808+97_808+100delinsAAAG , LRG_388t1:c.808+97_808+100delinsAAAG (ACTC1)	NP_005150.1:n.808+97_808+100delinsAAAG
NR_120329.1:n.299+14559_299+14562delinsCTTT (GJD2-DT)
NM_005159.5:c.808+97_808+100delinsAAAG (ACTC1) MANE Select	NP_005150.1:n.808+97_808+100delinsAAAG