Canonical Allele Identifier: CA2627661842

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790117-TATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790121_34790124del , CM000677.2:g.34790121_34790124del	GRCh38
NC_000015.9:g.35082322_35082325del , CM000677.1:g.35082322_35082325del	GRCh37
NC_000015.8:g.32869614_32869617del	NCBI36
NG_007553.1:g.10606_10609del , LRG_388:g.10606_10609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2325_2328del (ACTC1)
ENST00000290378.4:c.*291_*294del (ACTC1)	ENSP00000290378.4:n.*291_*294del
NM_005159.4:c.*291_*294del , LRG_388t1:c.*291_*294del (ACTC1)	NP_005150.1:n.*291_*294del
NR_120329.1:n.299+12690_299+12693del (GJD2-DT)