Canonical Allele Identifier: CA617555392

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1284809593
• gnomAD v2: 15-35085441-C-CAT
• gnomAD v3: 15-34793240-C-CAT
• gnomAD v4: 15-34793240-C-CAT
• MyVariant Identifiers: chr15:g.35085441_35085442insAT (hg19) ; chr15:g.34793240_34793241insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793242_34793243dup , CM000677.2:g.34793242_34793243dup	GRCh38
NC_000015.9:g.35085443_35085444dup , CM000677.1:g.35085443_35085444dup	GRCh37
NC_000015.8:g.32872735_32872736dup	NCBI36
NG_007553.1:g.7485_7486dup , LRG_388:g.7485_7486dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.560+3_560+4dup (ACTC1)
ENST00000290378.6:c.454+3_454+4dup (ACTC1) MANE Select	ENSP00000290378.4:n.454+3_454+4dup
ENST00000647798.1:n.548+56_548+57dup (ACTC1)
ENST00000648556.1:n.611+3_611+4dup (ACTC1)
ENST00000650163.1:n.534+3_534+4dup (ACTC1)
ENST00000290378.4:c.454+3_454+4dup (ACTC1)	ENSP00000290378.4:n.454+3_454+4dup
NM_005159.4:c.454+3_454+4dup , LRG_388t1:c.454+3_454+4dup (ACTC1)	NP_005150.1:n.454+3_454+4dup
NR_120329.1:n.299+15811_299+15812dup (GJD2-DT)
NM_005159.5:c.454+3_454+4dup (ACTC1) MANE Select	NP_005150.1:n.454+3_454+4dup