Canonical Allele Identifier: CA2169206409

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791394_34791397delinsACTT , CM000677.2:g.34791394_34791397delinsACTT	GRCh38
NC_000015.9:g.35083595_35083598delinsACTT , CM000677.1:g.35083595_35083598delinsACTT	GRCh37
NC_000015.8:g.32870887_32870890delinsACTT	NCBI36
NG_007553.1:g.9330_9333delinsAAGT , LRG_388:g.9330_9333delinsAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1607_1610delinsAAGT (ACTC1)
ENST00000290378.6:c.809-102_809-99delinsAAGT (ACTC1) MANE Select	ENSP00000290378.4:n.809-102_809-99delinsAAGT
ENST00000647798.1:n.903-102_903-99delinsAAGT (ACTC1)
ENST00000650163.1:n.889-102_889-99delinsAAGT (ACTC1)
ENST00000290378.4:c.809-102_809-99delinsAAGT (ACTC1)	ENSP00000290378.4:n.809-102_809-99delinsAAGT
ENST00000557860.1:n.499-102_499-99delinsAAGT (ACTC1)
NM_005159.4:c.809-102_809-99delinsAAGT , LRG_388t1:c.809-102_809-99delinsAAGT (ACTC1)	NP_005150.1:n.809-102_809-99delinsAAGT
NR_120329.1:n.299+13963_299+13966delinsACTT (GJD2-DT)
NM_005159.5:c.809-102_809-99delinsAAGT (ACTC1) MANE Select	NP_005150.1:n.809-102_809-99delinsAAGT