Canonical Allele Identifier: CA968569632

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891704042
• gnomAD v3: 15-34791354-TCAC-T
• gnomAD v4: 15-34791354-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791355_34791357del , CM000677.2:g.34791355_34791357del	GRCh38
NC_000015.9:g.35083556_35083558del , CM000677.1:g.35083556_35083558del	GRCh37
NC_000015.8:g.32870848_32870850del	NCBI36
NG_007553.1:g.9370_9372del , LRG_388:g.9370_9372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1647_1649del (ACTC1)
ENST00000290378.6:c.809-62_809-60del (ACTC1) MANE Select	ENSP00000290378.4:n.809-62_809-60del
ENST00000647798.1:n.903-62_903-60del (ACTC1)
ENST00000650163.1:n.889-62_889-60del (ACTC1)
ENST00000290378.4:c.809-62_809-60del (ACTC1)	ENSP00000290378.4:n.809-62_809-60del
ENST00000557860.1:n.499-62_499-60del (ACTC1)
NM_005159.4:c.809-62_809-60del , LRG_388t1:c.809-62_809-60del (ACTC1)	NP_005150.1:n.809-62_809-60del
NR_120329.1:n.299+13924_299+13926del (GJD2-DT)
NM_005159.5:c.809-62_809-60del (ACTC1) MANE Select	NP_005150.1:n.809-62_809-60del