Canonical Allele Identifier: CA2169210592

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891749412

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793446_34793447del , CM000677.2:g.34793446_34793447del	GRCh38
NC_000015.9:g.35085647_35085648del , CM000677.1:g.35085647_35085648del	GRCh37
NC_000015.8:g.32872939_32872940del	NCBI36
NG_007553.1:g.7280_7281del , LRG_388:g.7280_7281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.358_359del (ACTC1)
ENST00000290378.6:c.252_253del (ACTC1) MANE Select	ENSP00000290378.4:p.Met84IlefsTer11
ENST00000647798.1:n.399_400del (ACTC1)
ENST00000648556.1:n.409_410del (ACTC1)
ENST00000650163.1:n.332_333del (ACTC1)
ENST00000290378.4:c.252_253del (ACTC1)	ENSP00000290378.4:p.Met84IlefsTer11
NM_005159.4:c.252_253del , LRG_388t1:c.252_253del (ACTC1)	NP_005150.1:p.Met84IlefsTer11
NR_120329.1:n.299+16015_299+16016del (GJD2-DT)
NM_005159.5:c.252_253del (ACTC1) MANE Select	NP_005150.1:p.Met84IlefsTer11