Canonical Allele Identifier: CA10635871

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 315708
• ClinVar RCV Id: RCV000293852 ; RCV000304122 ; RCV000307785 ; RCV000362302 ; RCV000328860 ; RCV000607885 ; RCV001712023 ; RCV002061178 ; RCV004017590
• dbSNP Id: rs59431308
• gnomAD v2: 15-35083508-TCACA-T
• gnomAD v3: 15-34791307-TCACA-T
• gnomAD v4: 15-34791307-TCACA-T
• MyVariant Identifiers: chr15:g.35083525_35083528del (hg19) ; chr15:g.35083523_35083526del (hg19) ; chr15:g.35083509_35083512del (hg19) ; chr15:g.34791322_34791325del (hg38) ; chr15:g.34791308_34791311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791350_34791353del , CM000677.2:g.34791350_34791353del	GRCh38
NC_000015.9:g.35083551_35083554del , CM000677.1:g.35083551_35083554del	GRCh37
NC_000015.8:g.32870843_32870846del	NCBI36
NG_007553.1:g.9416_9419del , LRG_388:g.9416_9419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1693_1696del (ACTC1)
ENST00000290378.6:c.809-16_809-13del (ACTC1) MANE Select	ENSP00000290378.4:n.809-16_809-13del
ENST00000647798.1:n.903-16_903-13del (ACTC1)
ENST00000650163.1:n.889-16_889-13del (ACTC1)
ENST00000290378.4:c.809-16_809-13del (ACTC1)	ENSP00000290378.4:n.809-16_809-13del
ENST00000557860.1:n.499-16_499-13del (ACTC1)
NM_005159.4:c.809-16_809-13del , LRG_388t1:c.809-16_809-13del (ACTC1)	NP_005150.1:n.809-16_809-13del
NR_120329.1:n.299+13919_299+13922del (GJD2-DT)
NM_005159.5:c.809-16_809-13del (ACTC1) MANE Select	NP_005150.1:n.809-16_809-13del