Canonical Allele Identifier: CA2999307635

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792002_34792003insAA , CM000677.2:g.34792002_34792003insAA	GRCh38
NC_000015.9:g.35084203_35084204insAA , CM000677.1:g.35084203_35084204insAA	GRCh37
NC_000015.8:g.32871495_32871496insAA	NCBI36
NG_007553.1:g.8724_8725insTT , LRG_388:g.8724_8725insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1001_1002insTT (ACTC1)
ENST00000290378.6:c.808+87_808+88insTT (ACTC1) MANE Select	ENSP00000290378.4:n.808+87_808+88insTT
ENST00000647798.1:n.902+87_902+88insTT (ACTC1)
ENST00000650163.1:n.888+87_888+88insTT (ACTC1)
ENST00000290378.4:c.808+87_808+88insTT (ACTC1)	ENSP00000290378.4:n.808+87_808+88insTT
ENST00000557860.1:n.498+87_498+88insTT (ACTC1)
ENST00000560563.1:n.394_395insTT (ACTC1)
NM_005159.4:c.808+87_808+88insTT , LRG_388t1:c.808+87_808+88insTT (ACTC1)	NP_005150.1:n.808+87_808+88insTT
NR_120329.1:n.299+14571_299+14572insAA (GJD2-DT)
NM_005159.5:c.808+87_808+88insTT (ACTC1) MANE Select	NP_005150.1:n.808+87_808+88insTT