Canonical Allele Identifier: CA2531483599

Gene: ACTG1

Linked Data

• gnomAD v4: 17-81511105-ATACCTAGGGGACAGAGCCCTCCCTTAGTGATGCTGTGTCACCGAGGATGTAAGAGTAGAAACCTTTAGCTCACAACACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511110_81511188del , CM000679.2:g.81511110_81511188del	GRCh38
NC_000017.10:g.79478136_79478214del , CM000679.1:g.79478136_79478214del	GRCh37
NC_000017.9:g.77092731_77092809del	NCBI36
NG_011433.1:g.6618_6696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.802+4_805del
ENST00000571691.6:c.730+4_733del
ENST00000571721.6:c.802+4_805del
ENST00000572105.7:c.*246+4_*249del
ENST00000573283.7:c.802+4_805del
ENST00000574671.6:n.1202+4_1205del
ENST00000575659.6:c.802+4_805del
ENST00000575994.6:c.802+4_805del
ENST00000576214.3:n.1103+4_1106del
ENST00000576544.6:c.802+4_805del
ENST00000615544.5:c.802+4_805del
ENST00000644774.2:c.775+4_778del
ENST00000679410.1:n.930_1008del
ENST00000679480.1:c.802+4_805del
ENST00000679535.1:n.1103+4_1106del
ENST00000679778.1:c.802+4_805del
ENST00000680227.1:c.802+4_805del
ENST00000680727.1:c.802+4_805del
ENST00000681052.1:c.802+4_805del
ENST00000681092.1:c.*606+4_*609del
ENST00000681842.1:c.802+4_805del
ENST00000331925.6:c.802+4_805del
ENST00000572105.6:c.*246+4_*249del
ENST00000573283.5:c.802+4_805del
ENST00000574671.5:n.661+4_664del
ENST00000575087.5:c.802+4_805del
ENST00000575842.5:c.802+4_805del
ENST00000576209.5:n.687+4_690del
ENST00000576214.2:n.1000+4_1003del
ENST00000576544.5:c.802+4_805del
ENST00000576917.5:n.859_937del
ENST00000615544.4:c.802+4_805del
NM_001199954.1:c.802+4_805del
NM_001614.3:c.802+4_805del
NR_037688.1:n.941+4_944del
NM_001199954.2:c.802+4_805del
NM_001614.4:c.802+4_805del
NR_037688.2:n.874+4_877del
NM_001614.5:c.802+4_805del
NR_037688.3:n.874+4_877del
NM_001199954.3:c.802+4_805del