Canonical Allele Identifier: CA268661234

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs374685988
• gnomAD v2: 15-35083538-A-AT
• gnomAD v4: 15-34791337-A-AT
• MyVariant Identifiers: chr15:g.35083538_35083539insT (hg19) ; chr15:g.34791337_34791338insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791337_34791338insT , CM000677.2:g.34791337_34791338insT	GRCh38
NC_000015.9:g.35083538_35083539insT , CM000677.1:g.35083538_35083539insT	GRCh37
NC_000015.8:g.32870830_32870831insT	NCBI36
NG_007553.1:g.9389_9390insA , LRG_388:g.9389_9390insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1666_1667insA (ACTC1)
ENST00000290378.6:c.809-43_809-42insA (ACTC1) MANE Select	ENSP00000290378.4:n.809-43_809-42insA
ENST00000647798.1:n.903-43_903-42insA (ACTC1)
ENST00000650163.1:n.889-43_889-42insA (ACTC1)
ENST00000290378.4:c.809-43_809-42insA (ACTC1)	ENSP00000290378.4:n.809-43_809-42insA
ENST00000557860.1:n.499-43_499-42insA (ACTC1)
NM_005159.4:c.809-43_809-42insA , LRG_388t1:c.809-43_809-42insA (ACTC1)	NP_005150.1:n.809-43_809-42insA
NR_120329.1:n.299+13906_299+13907insT (GJD2-DT)
NM_005159.5:c.809-43_809-42insA (ACTC1) MANE Select	NP_005150.1:n.809-43_809-42insA