Canonical Allele Identifier: CA968570509

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891754263
• gnomAD v3: 15-34793598-GCT-G
• gnomAD v4: 15-34793598-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793602_34793603del , CM000677.2:g.34793602_34793603del	GRCh38
NC_000015.9:g.35085803_35085804del , CM000677.1:g.35085803_35085804del	GRCh37
NC_000015.8:g.32873095_32873096del	NCBI36
NG_007553.1:g.7127_7128del , LRG_388:g.7127_7128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-31_236-30del (ACTC1)
ENST00000290378.6:c.130-31_130-30del (ACTC1) MANE Select	ENSP00000290378.4:n.130-31_130-30del
ENST00000647798.1:n.277-31_277-30del (ACTC1)
ENST00000648556.1:n.287-31_287-30del (ACTC1)
ENST00000650163.1:n.210-31_210-30del (ACTC1)
ENST00000290378.4:c.130-31_130-30del (ACTC1)	ENSP00000290378.4:n.130-31_130-30del
NM_005159.4:c.130-31_130-30del , LRG_388t1:c.130-31_130-30del (ACTC1)	NP_005150.1:n.130-31_130-30del
NR_120329.1:n.299+16171_299+16172del (GJD2-DT)
NM_005159.5:c.130-31_130-30del (ACTC1) MANE Select	NP_005150.1:n.130-31_130-30del