Canonical Allele Identifier: CA617197056

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1203419121
• gnomAD v2: 15-35083624-TTG-T
• gnomAD v3: 15-34791423-TTG-T
• gnomAD v4: 15-34791423-TTG-T
• MyVariant Identifiers: chr15:g.35083625_35083626del (hg19) ; chr15:g.34791424_34791425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791425_34791426del , CM000677.2:g.34791425_34791426del	GRCh38
NC_000015.9:g.35083626_35083627del , CM000677.1:g.35083626_35083627del	GRCh37
NC_000015.8:g.32870918_32870919del	NCBI36
NG_007553.1:g.9302_9303del , LRG_388:g.9302_9303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1579_1580del (ACTC1)
ENST00000290378.6:c.809-130_809-129del (ACTC1) MANE Select	ENSP00000290378.4:n.809-130_809-129del
ENST00000647798.1:n.903-130_903-129del (ACTC1)
ENST00000650163.1:n.889-130_889-129del (ACTC1)
ENST00000290378.4:c.809-130_809-129del (ACTC1)	ENSP00000290378.4:n.809-130_809-129del
ENST00000557860.1:n.499-130_499-129del (ACTC1)
NM_005159.4:c.809-130_809-129del , LRG_388t1:c.809-130_809-129del (ACTC1)	NP_005150.1:n.809-130_809-129del
NR_120329.1:n.299+13994_299+13995del (GJD2-DT)
NM_005159.5:c.809-130_809-129del (ACTC1) MANE Select	NP_005150.1:n.809-130_809-129del