Canonical Allele Identifier: CA712279392

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1462476672
• gnomAD v3: 15-34791990-CTTT-C
• gnomAD v4: 15-34791990-CTTT-C
• MyVariant Identifiers: chr15:g.35084192_35084194del (hg19) ; chr15:g.34791991_34791993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791992_34791994del , CM000677.2:g.34791992_34791994del	GRCh38
NC_000015.9:g.35084193_35084195del , CM000677.1:g.35084193_35084195del	GRCh37
NC_000015.8:g.32871485_32871487del	NCBI36
NG_007553.1:g.8734_8736del , LRG_388:g.8734_8736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1011_1013del (ACTC1)
ENST00000290378.6:c.808+97_808+99del (ACTC1) MANE Select	ENSP00000290378.4:n.808+97_808+99del
ENST00000647798.1:n.902+97_902+99del (ACTC1)
ENST00000650163.1:n.888+97_888+99del (ACTC1)
ENST00000290378.4:c.808+97_808+99del (ACTC1)	ENSP00000290378.4:n.808+97_808+99del
ENST00000557860.1:n.498+97_498+99del (ACTC1)
ENST00000560563.1:n.404_406del (ACTC1)
NM_005159.4:c.808+97_808+99del , LRG_388t1:c.808+97_808+99del (ACTC1)	NP_005150.1:n.808+97_808+99del
NR_120329.1:n.299+14561_299+14563del (GJD2-DT)
NM_005159.5:c.808+97_808+99del (ACTC1) MANE Select	NP_005150.1:n.808+97_808+99del