Canonical Allele Identifier: CA2575670103

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790615_34790621del , CM000677.2:g.34790615_34790621del	GRCh38
NC_000015.9:g.35082816_35082822del , CM000677.1:g.35082816_35082822del	GRCh37
NC_000015.8:g.32870108_32870114del	NCBI36
NG_007553.1:g.10108_10114del , LRG_388:g.10108_10114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-64_1891-58del (ACTC1)
ENST00000290378.6:c.991-64_991-58del (ACTC1) MANE Select	ENSP00000290378.4:n.991-64_991-58del
ENST00000647798.1:n.1085-64_1085-58del (ACTC1)
ENST00000650163.1:n.1071-64_1071-58del (ACTC1)
ENST00000290378.4:c.991-64_991-58del (ACTC1)	ENSP00000290378.4:n.991-64_991-58del
NM_005159.4:c.991-64_991-58del , LRG_388t1:c.991-64_991-58del (ACTC1)	NP_005150.1:n.991-64_991-58del
NR_120329.1:n.299+13184_299+13190del (GJD2-DT)
NM_005159.5:c.991-64_991-58del (ACTC1) MANE Select	NP_005150.1:n.991-64_991-58del