Canonical Allele Identifier: CA712280432

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1347224434
• gnomAD v2: 15-35085313-CT-C
• gnomAD v3: 15-34793112-CT-C
• gnomAD v4: 15-34793112-CT-C
• MyVariant Identifiers: chr15:g.35085314del (hg19) ; chr15:g.34793113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793113del , CM000677.2:g.34793113del	GRCh38
NC_000015.9:g.35085314del , CM000677.1:g.35085314del	GRCh37
NC_000015.8:g.32872606del	NCBI36
NG_007553.1:g.7614del , LRG_388:g.7614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+132del (ACTC1)
ENST00000290378.6:c.454+132del (ACTC1) MANE Select	ENSP00000290378.4:n.454+132del
ENST00000647798.1:n.548+185del (ACTC1)
ENST00000648556.1:n.611+132del (ACTC1)
ENST00000650163.1:n.534+132del (ACTC1)
ENST00000290378.4:c.454+132del (ACTC1)	ENSP00000290378.4:n.454+132del
NM_005159.4:c.454+132del , LRG_388t1:c.454+132del (ACTC1)	NP_005150.1:n.454+132del
NR_120329.1:n.299+15682del (GJD2-DT)
NM_005159.5:c.454+132del (ACTC1) MANE Select	NP_005150.1:n.454+132del