Canonical Allele Identifier: CA2169207147

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891713611

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791891_34791892del , CM000677.2:g.34791891_34791892del	GRCh38
NC_000015.9:g.35084092_35084093del , CM000677.1:g.35084092_35084093del	GRCh37
NC_000015.8:g.32871384_32871385del	NCBI36
NG_007553.1:g.8839_8840del , LRG_388:g.8839_8840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1116_1117del (ACTC1)
ENST00000290378.6:c.808+202_808+203del (ACTC1) MANE Select	ENSP00000290378.4:n.808+202_808+203del
ENST00000647798.1:n.902+202_902+203del (ACTC1)
ENST00000650163.1:n.888+202_888+203del (ACTC1)
ENST00000290378.4:c.808+202_808+203del (ACTC1)	ENSP00000290378.4:n.808+202_808+203del
ENST00000557860.1:n.498+202_498+203del (ACTC1)
ENST00000560563.1:n.509_510del (ACTC1)
NM_005159.4:c.808+202_808+203del , LRG_388t1:c.808+202_808+203del (ACTC1)	NP_005150.1:n.808+202_808+203del
NR_120329.1:n.299+14460_299+14461del (GJD2-DT)
NM_005159.5:c.808+202_808+203del (ACTC1) MANE Select	NP_005150.1:n.808+202_808+203del