Canonical Allele Identifier: CA2640438570

Gene: ACTG1

Linked Data

• gnomAD v4: 17-81512749-ACGGCGGAGCGGCGGAAGAACAGAGTGCGAGAGCTGGCAGCGGCGACTGAGACCGACCGCGGCCTCCCCCGCCGTTATTTAAGCGGAAGCGGCGCGCCCGCGCGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512756_81512861del , CM000679.2:g.81512756_81512861del	GRCh38
NC_000017.10:g.79479782_79479887del , CM000679.1:g.79479782_79479887del	GRCh37
NC_000017.9:g.77094377_77094482del	NCBI36
NG_011433.1:g.4947_5052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000575659.6:c.-6-495_-6-390del	ENSP00000459119.2:n.-6-495_-6-390del
ENST00000575994.6:c.-6-495_-6-390del	ENSP00000460464.2:n.-6-495_-6-390del
ENST00000615544.5:c.-6-495_-6-390del	ENSP00000477968.1:n.-6-495_-6-390del
ENST00000679778.1:c.-6-495_-6-390del	ENSP00000505235.1:n.-6-495_-6-390del
ENST00000681052.1:c.-67-61_-23del
ENST00000331925.6:c.-128_-23del	ENSP00000331514.2:n.-128_-23del
ENST00000575659.5:c.-6-495_-6-390del	ENSP00000459119.1:n.-6-495_-6-390del
ENST00000575994.5:c.-6-495_-6-390del	ENSP00000460464.1:n.-6-495_-6-390del
NM_001199954.1:c.-247_-142del	NP_001186883.1:n.-247_-142del
NM_001614.3:c.-128_-23del	NP_001605.1:n.-128_-23del
NR_037688.1:n.12_117del