Canonical Allele Identifier: CA2627661205

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34789175-TTCACTGGCAATTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789177_34789190del , CM000677.2:g.34789177_34789190del	GRCh38
NC_000015.9:g.35081378_35081391del , CM000677.1:g.35081378_35081391del	GRCh37
NC_000015.8:g.32868670_32868683del	NCBI36
NG_007553.1:g.11538_11551del , LRG_388:g.11538_11551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1223_*1236del (ACTC1)	ENSP00000290378.4:n.*1223_*1236del
NM_005159.4:c.*1223_*1236del , LRG_388t1:c.*1223_*1236del (ACTC1)	NP_005150.1:n.*1223_*1236del
NR_120329.1:n.299+11746_299+11759del (GJD2-DT)