Canonical Allele Identifier: CA620390099

Gene: ABCA3

Linked Data

• dbSNP Id: rs1567350244
• gnomAD v2: 16-2365203-TTAC-T
• gnomAD v3: 16-2315202-TTAC-T
• gnomAD v4: 16-2315202-TTAC-T
• MyVariant Identifiers: chr16:g.2365204_2365206del (hg19) ; chr16:g.2315203_2315205del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315203_2315205del , CM000678.2:g.2315203_2315205del	GRCh38
NC_000016.9:g.2365204_2365206del , CM000678.1:g.2365204_2365206del	GRCh37
NC_000016.8:g.2305205_2305207del	NCBI36
NG_011790.1:g.30542_30544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2078_1111+2080del MANE Select	ENSP00000301732.5:n.1111+2078_1111+2080del
ENST00000301732.9:c.1111+2078_1111+2080del	ENSP00000301732.5:n.1111+2078_1111+2080del
ENST00000382381.7:c.1111+2078_1111+2080del	ENSP00000371818.3:n.1111+2078_1111+2080del
ENST00000563623.5:n.1674+2078_1674+2080del
NM_001089.2:c.1111+2078_1111+2080del	NP_001080.2:n.1111+2078_1111+2080del
NM_001089.3:c.1111+2078_1111+2080del MANE Select	NP_001080.2:n.1111+2078_1111+2080del