Canonical Allele Identifier: CA2575670171

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791347-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791347_34791348insT , CM000677.2:g.34791347_34791348insT	GRCh38
NC_000015.9:g.35083548_35083549insT , CM000677.1:g.35083548_35083549insT	GRCh37
NC_000015.8:g.32870840_32870841insT	NCBI36
NG_007553.1:g.9379_9380insA , LRG_388:g.9379_9380insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1656_1657insA (ACTC1)
ENST00000290378.6:c.809-53_809-52insA (ACTC1) MANE Select	ENSP00000290378.4:n.809-53_809-52insA
ENST00000647798.1:n.903-53_903-52insA (ACTC1)
ENST00000650163.1:n.889-53_889-52insA (ACTC1)
ENST00000290378.4:c.809-53_809-52insA (ACTC1)	ENSP00000290378.4:n.809-53_809-52insA
ENST00000557860.1:n.499-53_499-52insA (ACTC1)
NM_005159.4:c.809-53_809-52insA , LRG_388t1:c.809-53_809-52insA (ACTC1)	NP_005150.1:n.809-53_809-52insA
NR_120329.1:n.299+13916_299+13917insT (GJD2-DT)
NM_005159.5:c.809-53_809-52insA (ACTC1) MANE Select	NP_005150.1:n.809-53_809-52insA