Canonical Allele Identifier: CA620390113

Gene: ABCA3

Linked Data

• dbSNP Id: rs1555489503
• gnomAD v2: 16-2365239-A-ACG
• gnomAD v3: 16-2315238-A-ACG
• gnomAD v4: 16-2315238-A-ACG
• MyVariant Identifiers: chr16:g.2365239_2365240insCG (hg19) ; chr16:g.2315238_2315239insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315239_2315240insGC , CM000678.2:g.2315239_2315240insGC	GRCh38
NC_000016.9:g.2365240_2365241insGC , CM000678.1:g.2365240_2365241insGC	GRCh37
NC_000016.8:g.2305241_2305242insGC	NCBI36
NG_011790.1:g.30508_30509insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2044_1111+2045insCG MANE Select	ENSP00000301732.5:n.1111+2044_1111+2045insCG
ENST00000301732.9:c.1111+2044_1111+2045insCG	ENSP00000301732.5:n.1111+2044_1111+2045insCG
ENST00000382381.7:c.1111+2044_1111+2045insCG	ENSP00000371818.3:n.1111+2044_1111+2045insCG
ENST00000563623.5:n.1674+2044_1674+2045insCG
NM_001089.2:c.1111+2044_1111+2045insCG	NP_001080.2:n.1111+2044_1111+2045insCG
NM_001089.3:c.1111+2044_1111+2045insCG MANE Select	NP_001080.2:n.1111+2044_1111+2045insCG