Canonical Allele Identifier: CA2202176800

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093753435

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337343dup , CM000678.2:g.2337343dup	GRCh38
NC_000016.9:g.2387344dup , CM000678.1:g.2387344dup	GRCh37
NC_000016.8:g.2327345dup	NCBI36
NG_011790.1:g.8404dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+3230dup MANE Select	ENSP00000301732.5:n.-539+3230dup
ENST00000301732.9:c.-539+3230dup	ENSP00000301732.5:n.-539+3230dup
ENST00000382381.7:c.-539+3230dup	ENSP00000371818.3:n.-539+3230dup
ENST00000563623.5:n.25+3230dup
NM_001089.2:c.-539+3230dup	NP_001080.2:n.-539+3230dup
NM_001089.3:c.-539+3230dup MANE Select	NP_001080.2:n.-539+3230dup