Canonical Allele Identifier: CA276820684

Gene: ABCA3

Linked Data

• dbSNP Id: rs544327317
• gnomAD v2: 16-2328688-C-CATCT
• gnomAD v3: 16-2278687-C-CATCT
• gnomAD v4: 16-2278687-C-CATCT
• MyVariant Identifiers: chr16:g.2328688_2328689insATCT (hg19) ; chr16:g.2278687_2278688insATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278688_2278691dup , CM000678.2:g.2278688_2278691dup	GRCh38
NC_000016.9:g.2328689_2328692dup , CM000678.1:g.2328689_2328692dup	GRCh37
NC_000016.8:g.2268690_2268693dup	NCBI36
NG_011790.1:g.67056_67059dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-233_4548-230dup MANE Select	ENSP00000301732.5:n.4548-233_4548-230dup
ENST00000301732.9:c.4548-233_4548-230dup	ENSP00000301732.5:n.4548-233_4548-230dup
ENST00000382381.7:c.4374-233_4374-230dup	ENSP00000371818.3:n.4374-233_4374-230dup
ENST00000566200.1:n.1069-233_1069-230dup
NM_001089.2:c.4548-233_4548-230dup	NP_001080.2:n.4548-233_4548-230dup
NM_001089.3:c.4548-233_4548-230dup MANE Select	NP_001080.2:n.4548-233_4548-230dup