Canonical Allele Identifier: CA627771902

Gene: ACTG1

Linked Data

• dbSNP Id: rs1555667585
• gnomAD v2: 17-79479813-A-AGCGGCGACTGAGACCGACC
• gnomAD v4: 17-81512787-A-AGCGGCGACTGAGACCGACC
• MyVariant Identifiers: chr17:g.79479813_79479814insGCGGCGACTGAGACCGACC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512793_81512811dup , CM000679.2:g.81512793_81512811dup	GRCh38
NC_000017.10:g.79479819_79479837dup , CM000679.1:g.79479819_79479837dup	GRCh37
NC_000017.9:g.77094414_77094432dup	NCBI36
NG_011433.1:g.4996_5014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-198_-180dup	ENSP00000466346.2:n.-198_-180dup
ENST00000572105.7:c.-79_-61dup	ENSP00000462823.1:n.-79_-61dup
ENST00000574671.6:n.46_64dup
ENST00000575659.6:c.-6-446_-6-428dup	ENSP00000459119.2:n.-6-446_-6-428dup
ENST00000575994.6:c.-6-446_-6-428dup	ENSP00000460464.2:n.-6-446_-6-428dup
ENST00000576214.3:n.46_64dup
ENST00000576544.6:c.-79_-61dup	ENSP00000461672.1:n.-79_-61dup
ENST00000615544.5:c.-6-446_-6-428dup	ENSP00000477968.1:n.-6-446_-6-428dup
ENST00000679410.1:n.46_64dup
ENST00000679535.1:n.46_64dup
ENST00000679778.1:c.-6-446_-6-428dup	ENSP00000505235.1:n.-6-446_-6-428dup
ENST00000681052.1:c.-67-12_-61dup
ENST00000681842.1:c.-79_-61dup	ENSP00000506126.1:n.-79_-61dup
ENST00000331925.6:c.-79_-61dup	ENSP00000331514.2:n.-79_-61dup
ENST00000575659.5:c.-6-446_-6-428dup	ENSP00000459119.1:n.-6-446_-6-428dup
ENST00000575994.5:c.-6-446_-6-428dup	ENSP00000460464.1:n.-6-446_-6-428dup
NM_001199954.1:c.-198_-180dup	NP_001186883.1:n.-198_-180dup
NM_001614.3:c.-79_-61dup	NP_001605.1:n.-79_-61dup
NR_037688.1:n.61_79dup