Canonical Allele Identifier: CA620390098

Gene: ABCA3

Linked Data

• dbSNP Id: rs1190105953
• gnomAD v2: 16-2365197-TGTA-T
• gnomAD v3: 16-2315196-TGTA-T
• gnomAD v4: 16-2315196-TGTA-T
• MyVariant Identifiers: chr16:g.2365198_2365200del (hg19) ; chr16:g.2315197_2315199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315197_2315199del , CM000678.2:g.2315197_2315199del	GRCh38
NC_000016.9:g.2365198_2365200del , CM000678.1:g.2365198_2365200del	GRCh37
NC_000016.8:g.2305199_2305201del	NCBI36
NG_011790.1:g.30548_30550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2084_1111+2086del MANE Select	ENSP00000301732.5:n.1111+2084_1111+2086del
ENST00000301732.9:c.1111+2084_1111+2086del	ENSP00000301732.5:n.1111+2084_1111+2086del
ENST00000382381.7:c.1111+2084_1111+2086del	ENSP00000371818.3:n.1111+2084_1111+2086del
ENST00000563623.5:n.1674+2084_1674+2086del
NM_001089.2:c.1111+2084_1111+2086del	NP_001080.2:n.1111+2084_1111+2086del
NM_001089.3:c.1111+2084_1111+2086del MANE Select	NP_001080.2:n.1111+2084_1111+2086del