Canonical Allele Identifier: CA2591002553

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v3: 15-34790765-TA-T
• gnomAD v4: 15-34790765-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790769del , CM000677.2:g.34790769del	GRCh38
NC_000015.9:g.35082970del , CM000677.1:g.35082970del	GRCh37
NC_000015.8:g.32870262del	NCBI36
NG_007553.1:g.9961del , LRG_388:g.9961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-211del (ACTC1)
ENST00000290378.6:c.991-211del (ACTC1) MANE Select	ENSP00000290378.4:n.991-211del
ENST00000647798.1:n.1085-211del (ACTC1)
ENST00000650163.1:n.1071-211del (ACTC1)
ENST00000290378.4:c.991-211del (ACTC1)	ENSP00000290378.4:n.991-211del
NM_005159.4:c.991-211del , LRG_388t1:c.991-211del (ACTC1)	NP_005150.1:n.991-211del
NR_120329.1:n.299+13338del (GJD2-DT)
NM_005159.5:c.991-211del (ACTC1) MANE Select	NP_005150.1:n.991-211del