Canonical Allele Identifier: CA2202146317

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278485_2278488delinsGGAA , CM000678.2:g.2278485_2278488delinsGGAA	GRCh38
NC_000016.9:g.2328486_2328489delinsGGAA , CM000678.1:g.2328486_2328489delinsGGAA	GRCh37
NC_000016.8:g.2268487_2268490delinsGGAA	NCBI36
NG_011790.1:g.67259_67262delinsTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-30_4548-27delinsTTCC MANE Select	ENSP00000301732.5:n.4548-30_4548-27delinsTTCC
ENST00000301732.9:c.4548-30_4548-27delinsTTCC	ENSP00000301732.5:n.4548-30_4548-27delinsTTCC
ENST00000382381.7:c.4374-30_4374-27delinsTTCC	ENSP00000371818.3:n.4374-30_4374-27delinsTTCC
ENST00000566200.1:n.1069-30_1069-27delinsTTCC
NM_001089.2:c.4548-30_4548-27delinsTTCC	NP_001080.2:n.4548-30_4548-27delinsTTCC
NM_001089.3:c.4548-30_4548-27delinsTTCC MANE Select	NP_001080.2:n.4548-30_4548-27delinsTTCC