Canonical Allele Identifier: CA712279360

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1386170587
• gnomAD v3: 15-34791860-G-GTCA
• gnomAD v4: 15-34791860-G-GTCA
• MyVariant Identifiers: chr15:g.35084061_35084062insTCA (hg19) ; chr15:g.34791860_34791861insTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791863_34791865dup , CM000677.2:g.34791863_34791865dup	GRCh38
NC_000015.9:g.35084064_35084066dup , CM000677.1:g.35084064_35084066dup	GRCh37
NC_000015.8:g.32871356_32871358dup	NCBI36
NG_007553.1:g.8864_8866dup , LRG_388:g.8864_8866dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1141_1143dup (ACTC1)
ENST00000290378.6:c.808+227_808+229dup (ACTC1) MANE Select	ENSP00000290378.4:n.808+227_808+229dup
ENST00000647798.1:n.902+227_902+229dup (ACTC1)
ENST00000650163.1:n.888+227_888+229dup (ACTC1)
ENST00000290378.4:c.808+227_808+229dup (ACTC1)	ENSP00000290378.4:n.808+227_808+229dup
ENST00000557860.1:n.498+227_498+229dup (ACTC1)
ENST00000560563.1:n.534_536dup (ACTC1)
NM_005159.4:c.808+227_808+229dup , LRG_388t1:c.808+227_808+229dup (ACTC1)	NP_005150.1:n.808+227_808+229dup
NR_120329.1:n.299+14432_299+14434dup (GJD2-DT)
NM_005159.5:c.808+227_808+229dup (ACTC1) MANE Select	NP_005150.1:n.808+227_808+229dup