Canonical Allele Identifier: CA2575670229

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793579dup , CM000677.2:g.34793579dup	GRCh38
NC_000015.9:g.35085780dup , CM000677.1:g.35085780dup	GRCh37
NC_000015.8:g.32873072dup	NCBI36
NG_007553.1:g.7148dup , LRG_388:g.7148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-10dup (ACTC1)
ENST00000290378.6:c.130-10dup (ACTC1) MANE Select	ENSP00000290378.4:n.130-10dup
ENST00000647798.1:n.277-10dup (ACTC1)
ENST00000648556.1:n.287-10dup (ACTC1)
ENST00000650163.1:n.210-10dup (ACTC1)
ENST00000290378.4:c.130-10dup (ACTC1)	ENSP00000290378.4:n.130-10dup
NM_005159.4:c.130-10dup , LRG_388t1:c.130-10dup (ACTC1)	NP_005150.1:n.130-10dup
NR_120329.1:n.299+16148dup (GJD2-DT)
NM_005159.5:c.130-10dup (ACTC1) MANE Select	NP_005150.1:n.130-10dup