Canonical Allele Identifier: CA2202146204

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093649663

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278275_2278280dup , CM000678.2:g.2278275_2278280dup	GRCh38
NC_000016.9:g.2328276_2328281dup , CM000678.1:g.2328276_2328281dup	GRCh37
NC_000016.8:g.2268277_2268282dup	NCBI36
NG_011790.1:g.67470_67475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4718+11_4718+16dup MANE Select	ENSP00000301732.5:n.4718+11_4718+16dup
ENST00000301732.9:c.4718+11_4718+16dup	ENSP00000301732.5:n.4718+11_4718+16dup
ENST00000382381.7:c.4544+11_4544+16dup	ENSP00000371818.3:n.4544+11_4544+16dup
NM_001089.2:c.4718+11_4718+16dup	NP_001080.2:n.4718+11_4718+16dup
NM_001089.3:c.4718+11_4718+16dup MANE Select	NP_001080.2:n.4718+11_4718+16dup