Canonical Allele Identifier: CA775645970
Gene: ACTG1 HGNC NCBI

Linked Data

dbSNP Id: rs1304795412

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81512579_81512595del , CM000679.2:g.81512579_81512595del GRCh38
NC_000017.10:g.79479605_79479621del , CM000679.1:g.79479605_79479621del GRCh37
NC_000017.9:g.77094200_77094216del NCBI36
NG_011433.1:g.5212_5228del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570382.2:c.-7+25_-7+41del ENSP00000466346.2:n.-7+25_-7+41del
ENST00000571691.6:c.-7+144_-7+160del ENSP00000461407.2:n.-7+144_-7+160del
ENST00000571721.6:c.-133_-117del ENSP00000460660.2:n.-133_-117del
ENST00000572105.7:c.-7+144_-7+160del ENSP00000462823.1:n.-7+144_-7+160del
ENST00000573283.7:c.-7+144_-7+160del MANE Select ENSP00000458435.1:n.-7+144_-7+160del
ENST00000574671.6:n.118+144_118+160del
ENST00000575659.6:c.-6-230_-6-214del ENSP00000459119.2:n.-6-230_-6-214del
ENST00000575994.6:c.-6-230_-6-214del ENSP00000460464.2:n.-6-230_-6-214del
ENST00000576214.3:n.118+144_118+160del
ENST00000576544.6:c.-7+144_-7+160del ENSP00000461672.1:n.-7+144_-7+160del
ENST00000615544.5:c.-6-230_-6-214del ENSP00000477968.1:n.-6-230_-6-214del
ENST00000644774.2:c.-7+144_-7+160del ENSP00000493648.2:n.-7+144_-7+160del
ENST00000679410.1:n.118+144_118+160del
ENST00000679480.1:c.-7+11_-7+27del ENSP00000506201.1:n.-7+11_-7+27del
ENST00000679535.1:n.118+144_118+160del
ENST00000679778.1:c.-6-230_-6-214del ENSP00000505235.1:n.-6-230_-6-214del
ENST00000680227.1:c.-7+25_-7+41del ENSP00000506253.1:n.-7+25_-7+41del
ENST00000681052.1:c.-7+144_-7+160del ENSP00000505060.1:n.-7+144_-7+160del
ENST00000681092.1:c.-7+144_-7+160del ENSP00000506720.1:n.-7+144_-7+160del
ENST00000681842.1:c.-7+144_-7+160del ENSP00000506126.1:n.-7+144_-7+160del
ENST00000331925.6:c.-7+144_-7+160del ENSP00000331514.2:n.-7+144_-7+160del
ENST00000570382.1:c.-7+144_-7+160del ENSP00000466346.1:n.-7+144_-7+160del
ENST00000571691.5:c.-7+144_-7+160del ENSP00000461407.1:n.-7+144_-7+160del
ENST00000571721.5:c.-133_-117del ENSP00000460660.1:n.-133_-117del
ENST00000572105.6:c.-7+144_-7+160del ENSP00000462823.1:n.-7+144_-7+160del
ENST00000573283.5:c.-7+25_-7+41del ENSP00000458435.1:n.-7+25_-7+41del
ENST00000575087.5:c.-7+16_-7+32del ENSP00000459124.1:n.-7+16_-7+32del
ENST00000575659.5:c.-6-230_-6-214del ENSP00000459119.1:n.-6-230_-6-214del
ENST00000575842.5:c.-236_-220del ENSP00000458162.1:n.-236_-220del
ENST00000575994.5:c.-6-230_-6-214del ENSP00000460464.1:n.-6-230_-6-214del
ENST00000576214.2:n.15+144_15+160del
ENST00000576544.5:c.-7+144_-7+160del ENSP00000461672.1:n.-7+144_-7+160del
ENST00000576917.5:n.47+144_47+160del
ENST00000615544.4:c.-7+144_-7+160del ENSP00000477968.1:n.-7+144_-7+160del
NM_001199954.1:c.-7+25_-7+41del NP_001186883.1:n.-7+25_-7+41del
NM_001614.3:c.-7+144_-7+160del NP_001605.1:n.-7+144_-7+160del
NR_037688.1:n.133+144_133+160del
NM_001199954.2:c.-7+25_-7+41del NP_001186883.1:n.-7+25_-7+41del
NM_001614.4:c.-7+144_-7+160del NP_001605.1:n.-7+144_-7+160del
NR_037688.2:n.66+144_66+160del
NM_001614.5:c.-7+144_-7+160del MANE Select NP_001605.1:n.-7+144_-7+160del
NR_037688.3:n.66+144_66+160del
NM_001199954.3:c.-7+25_-7+41del NP_001186883.1:n.-7+25_-7+41del