Canonical Allele Identifier: CA2590066734

Gene: ABCA3

Linked Data

• dbSNP Id: rs2141753867
• gnomAD v3: 16-2337324-ACATT-A
• gnomAD v4: 16-2337324-ACATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337330_2337333del , CM000678.2:g.2337330_2337333del	GRCh38
NC_000016.9:g.2387331_2387334del , CM000678.1:g.2387331_2387334del	GRCh37
NC_000016.8:g.2327332_2327335del	NCBI36
NG_011790.1:g.8419_8422del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3245_-539+3248del MANE Select	ENSP00000301732.5:n.-539+3245_-539+3248del
ENST00000301732.9:c.-539+3245_-539+3248del	ENSP00000301732.5:n.-539+3245_-539+3248del
ENST00000382381.7:c.-539+3245_-539+3248del	ENSP00000371818.3:n.-539+3245_-539+3248del
ENST00000563623.5:n.25+3245_25+3248del
NM_001089.2:c.-539+3245_-539+3248del	NP_001080.2:n.-539+3245_-539+3248del
NM_001089.3:c.-539+3245_-539+3248del MANE Select	NP_001080.2:n.-539+3245_-539+3248del