Canonical Allele Identifier: CA276840389

Gene: ABCA3

Linked Data

• dbSNP Id: rs918444796
• gnomAD v2: 16-2365244-C-CAG
• gnomAD v3: 16-2315243-C-CAG
• gnomAD v4: 16-2315243-C-CAG
• MyVariant Identifiers: chr16:g.2365244_2365245insAG (hg19) ; chr16:g.2315243_2315244insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315244_2315245dup , CM000678.2:g.2315244_2315245dup	GRCh38
NC_000016.9:g.2365245_2365246dup , CM000678.1:g.2365245_2365246dup	GRCh37
NC_000016.8:g.2305246_2305247dup	NCBI36
NG_011790.1:g.30502_30503dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2038_1111+2039dup MANE Select	ENSP00000301732.5:n.1111+2038_1111+2039dup
ENST00000301732.9:c.1111+2038_1111+2039dup	ENSP00000301732.5:n.1111+2038_1111+2039dup
ENST00000382381.7:c.1111+2038_1111+2039dup	ENSP00000371818.3:n.1111+2038_1111+2039dup
ENST00000563623.5:n.1674+2038_1674+2039dup
NM_001089.2:c.1111+2038_1111+2039dup	NP_001080.2:n.1111+2038_1111+2039dup
NM_001089.3:c.1111+2038_1111+2039dup MANE Select	NP_001080.2:n.1111+2038_1111+2039dup