Canonical Allele Identifier: CA2169207274

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891714971

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791989_34791998del , CM000677.2:g.34791989_34791998del	GRCh38
NC_000015.9:g.35084190_35084199del , CM000677.1:g.35084190_35084199del	GRCh37
NC_000015.8:g.32871482_32871491del	NCBI36
NG_007553.1:g.8732_8741del , LRG_388:g.8732_8741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1009_1018del (ACTC1)
ENST00000290378.6:c.808+95_808+104del (ACTC1) MANE Select	ENSP00000290378.4:n.808+95_808+104del
ENST00000647798.1:n.902+95_902+104del (ACTC1)
ENST00000650163.1:n.888+95_888+104del (ACTC1)
ENST00000290378.4:c.808+95_808+104del (ACTC1)	ENSP00000290378.4:n.808+95_808+104del
ENST00000557860.1:n.498+95_498+104del (ACTC1)
ENST00000560563.1:n.402_411del (ACTC1)
NM_005159.4:c.808+95_808+104del , LRG_388t1:c.808+95_808+104del (ACTC1)	NP_005150.1:n.808+95_808+104del
NR_120329.1:n.299+14558_299+14567del (GJD2-DT)
NM_005159.5:c.808+95_808+104del (ACTC1) MANE Select	NP_005150.1:n.808+95_808+104del