Canonical Allele Identifier: CA712279295

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1344639327
• gnomAD v3: 15-34791561-CAGATGTATGA-C
• gnomAD v4: 15-34791561-CAGATGTATGA-C
• MyVariant Identifiers: chr15:g.35083763_35083772del (hg19) ; chr15:g.34791562_34791571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791570_34791579del , CM000677.2:g.34791570_34791579del	GRCh38
NC_000015.9:g.35083771_35083780del , CM000677.1:g.35083771_35083780del	GRCh37
NC_000015.8:g.32871063_32871072del	NCBI36
NG_007553.1:g.9156_9165del , LRG_388:g.9156_9165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1433_1442del (ACTC1)
ENST00000290378.6:c.809-276_809-267del (ACTC1) MANE Select	ENSP00000290378.4:n.809-276_809-267del
ENST00000647798.1:n.903-276_903-267del (ACTC1)
ENST00000650163.1:n.889-276_889-267del (ACTC1)
ENST00000290378.4:c.809-276_809-267del (ACTC1)	ENSP00000290378.4:n.809-276_809-267del
ENST00000557860.1:n.499-276_499-267del (ACTC1)
NM_005159.4:c.809-276_809-267del , LRG_388t1:c.809-276_809-267del (ACTC1)	NP_005150.1:n.809-276_809-267del
NR_120329.1:n.299+14139_299+14148del (GJD2-DT)
NM_005159.5:c.809-276_809-267del (ACTC1) MANE Select	NP_005150.1:n.809-276_809-267del