Canonical Allele Identifier: CA2741420051

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791314_34791328del , CM000677.2:g.34791314_34791328del	GRCh38
NC_000015.9:g.35083515_35083529del , CM000677.1:g.35083515_35083529del	GRCh37
NC_000015.8:g.32870807_32870821del	NCBI36
NG_007553.1:g.9399_9413del , LRG_388:g.9399_9413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1676_1690del (ACTC1)
ENST00000290378.6:c.809-33_809-19del (ACTC1) MANE Select	ENSP00000290378.4:n.809-33_809-19del
ENST00000647798.1:n.903-33_903-19del (ACTC1)
ENST00000650163.1:n.889-33_889-19del (ACTC1)
ENST00000290378.4:c.809-33_809-19del (ACTC1)	ENSP00000290378.4:n.809-33_809-19del
ENST00000557860.1:n.499-33_499-19del (ACTC1)
NM_005159.4:c.809-33_809-19del , LRG_388t1:c.809-33_809-19del (ACTC1)	NP_005150.1:n.809-33_809-19del
NR_120329.1:n.299+13883_299+13897del (GJD2-DT)
NM_005159.5:c.809-33_809-19del (ACTC1) MANE Select	NP_005150.1:n.809-33_809-19del