Canonical Allele Identifier: CA2202158188

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093685883

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2299672dup , CM000678.2:g.2299672dup	GRCh38
NC_000016.9:g.2349673dup , CM000678.1:g.2349673dup	GRCh37
NC_000016.8:g.2289674dup	NCBI36
NG_011790.1:g.46077dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1612-138dup MANE Select	ENSP00000301732.5:n.1612-138dup
ENST00000301732.9:c.1612-138dup	ENSP00000301732.5:n.1612-138dup
ENST00000382381.7:c.1438-138dup	ENSP00000371818.3:n.1438-138dup
ENST00000563623.5:n.2175-138dup
NM_001089.2:c.1612-138dup	NP_001080.2:n.1612-138dup
NM_001089.3:c.1612-138dup MANE Select	NP_001080.2:n.1612-138dup