Canonical Allele Identifier: CA2640437600

Gene: ACTG1

Linked Data

• gnomAD v4: 17-81512584-CCCCCAGCCCCGTCCGCCTGACCCGGCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512589_81512617del , CM000679.2:g.81512589_81512617del	GRCh38
NC_000017.10:g.79479615_79479643del , CM000679.1:g.79479615_79479643del	GRCh37
NC_000017.9:g.77094210_77094238del	NCBI36
NG_011433.1:g.5189_5217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-7+2_-7+30del
ENST00000571691.6:c.-7+121_-7+149del	ENSP00000461407.2:n.-7+121_-7+149del
ENST00000571721.6:c.-156_-128del	ENSP00000460660.2:n.-156_-128del
ENST00000572105.7:c.-7+121_-7+149del	ENSP00000462823.1:n.-7+121_-7+149del
ENST00000573283.7:c.-7+121_-7+149del MANE Select	ENSP00000458435.1:n.-7+121_-7+149del
ENST00000574671.6:n.118+121_118+149del
ENST00000575659.6:c.-6-253_-6-225del	ENSP00000459119.2:n.-6-253_-6-225del
ENST00000575994.6:c.-6-253_-6-225del	ENSP00000460464.2:n.-6-253_-6-225del
ENST00000576214.3:n.118+121_118+149del
ENST00000576544.6:c.-7+121_-7+149del	ENSP00000461672.1:n.-7+121_-7+149del
ENST00000615544.5:c.-6-253_-6-225del	ENSP00000477968.1:n.-6-253_-6-225del
ENST00000644774.2:c.-7+121_-7+149del	ENSP00000493648.2:n.-7+121_-7+149del
ENST00000679410.1:n.118+121_118+149del
ENST00000679480.1:c.-19_-7+16del
ENST00000679535.1:n.118+121_118+149del
ENST00000679778.1:c.-6-253_-6-225del	ENSP00000505235.1:n.-6-253_-6-225del
ENST00000680227.1:c.-7+2_-7+30del
ENST00000681052.1:c.-7+121_-7+149del	ENSP00000505060.1:n.-7+121_-7+149del
ENST00000681092.1:c.-7+121_-7+149del	ENSP00000506720.1:n.-7+121_-7+149del
ENST00000681842.1:c.-7+121_-7+149del	ENSP00000506126.1:n.-7+121_-7+149del
ENST00000331925.6:c.-7+121_-7+149del	ENSP00000331514.2:n.-7+121_-7+149del
ENST00000570382.1:c.-7+121_-7+149del	ENSP00000466346.1:n.-7+121_-7+149del
ENST00000571691.5:c.-7+121_-7+149del	ENSP00000461407.1:n.-7+121_-7+149del
ENST00000571721.5:c.-156_-128del	ENSP00000460660.1:n.-156_-128del
ENST00000572105.6:c.-7+121_-7+149del	ENSP00000462823.1:n.-7+121_-7+149del
ENST00000573283.5:c.-7+2_-7+30del
ENST00000575087.5:c.-14_-7+21del
ENST00000575659.5:c.-6-253_-6-225del	ENSP00000459119.1:n.-6-253_-6-225del
ENST00000575842.5:c.-259_-231del	ENSP00000458162.1:n.-259_-231del
ENST00000575994.5:c.-6-253_-6-225del	ENSP00000460464.1:n.-6-253_-6-225del
ENST00000576214.2:n.15+121_15+149del
ENST00000576544.5:c.-7+121_-7+149del	ENSP00000461672.1:n.-7+121_-7+149del
ENST00000576917.5:n.47+121_47+149del
ENST00000615544.4:c.-7+121_-7+149del	ENSP00000477968.1:n.-7+121_-7+149del
NM_001199954.1:c.-7+2_-7+30del
NM_001614.3:c.-7+121_-7+149del	NP_001605.1:n.-7+121_-7+149del
NR_037688.1:n.133+121_133+149del
NM_001199954.2:c.-7+2_-7+30del
NM_001614.4:c.-7+121_-7+149del	NP_001605.1:n.-7+121_-7+149del
NR_037688.2:n.66+121_66+149del
NM_001614.5:c.-7+121_-7+149del MANE Select	NP_001605.1:n.-7+121_-7+149del
NR_037688.3:n.66+121_66+149del
NM_001199954.3:c.-7+2_-7+30del