Canonical Allele Identifier: CA2627662872

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792034-GAGACCCTAAGATTTCCAGGGAAAATCGTGCCTCTGCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792043_34792081del , CM000677.2:g.34792043_34792081del	GRCh38
NC_000015.9:g.35084244_35084282del , CM000677.1:g.35084244_35084282del	GRCh37
NC_000015.8:g.32871536_32871574del	NCBI36
NG_007553.1:g.8654_8692del , LRG_388:g.8654_8692del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.931_969del (ACTC1)
ENST00000290378.6:c.808+17_808+55del (ACTC1) MANE Select	ENSP00000290378.4:n.808+17_808+55del
ENST00000647798.1:n.902+17_902+55del (ACTC1)
ENST00000650163.1:n.888+17_888+55del (ACTC1)
ENST00000290378.4:c.808+17_808+55del (ACTC1)	ENSP00000290378.4:n.808+17_808+55del
ENST00000557860.1:n.498+17_498+55del (ACTC1)
ENST00000560563.1:n.324_362del (ACTC1)
NM_005159.4:c.808+17_808+55del , LRG_388t1:c.808+17_808+55del (ACTC1)	NP_005150.1:n.808+17_808+55del
NR_120329.1:n.299+14612_299+14650del (GJD2-DT)
NM_005159.5:c.808+17_808+55del (ACTC1) MANE Select	NP_005150.1:n.808+17_808+55del