Canonical Allele Identifier: CA2803722624

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790207_34790208del , CM000677.2:g.34790207_34790208del	GRCh38
NC_000015.9:g.35082408_35082409del , CM000677.1:g.35082408_35082409del	GRCh37
NC_000015.8:g.32869700_32869701del	NCBI36
NG_007553.1:g.10519_10520del , LRG_388:g.10519_10520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2238_2239del (ACTC1)
ENST00000290378.4:c.*204_*205del (ACTC1)	ENSP00000290378.4:n.*204_*205del
NM_005159.4:c.*204_*205del , LRG_388t1:c.*204_*205del (ACTC1)	NP_005150.1:n.*204_*205del
NR_120329.1:n.299+12776_299+12777del (GJD2-DT)