Canonical Allele Identifier: CA2202146386

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278594_2278596delinsCTG , CM000678.2:g.2278594_2278596delinsCTG	GRCh38
NC_000016.9:g.2328595_2328597delinsCTG , CM000678.1:g.2328595_2328597delinsCTG	GRCh37
NC_000016.8:g.2268596_2268598delinsCTG	NCBI36
NG_011790.1:g.67151_67153delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-138_4548-136delinsCAG MANE Select	ENSP00000301732.5:n.4548-138_4548-136delinsCAG
ENST00000301732.9:c.4548-138_4548-136delinsCAG	ENSP00000301732.5:n.4548-138_4548-136delinsCAG
ENST00000382381.7:c.4374-138_4374-136delinsCAG	ENSP00000371818.3:n.4374-138_4374-136delinsCAG
ENST00000566200.1:n.1069-138_1069-136delinsCAG
NM_001089.2:c.4548-138_4548-136delinsCAG	NP_001080.2:n.4548-138_4548-136delinsCAG
NM_001089.3:c.4548-138_4548-136delinsCAG MANE Select	NP_001080.2:n.4548-138_4548-136delinsCAG