Canonical Allele Identifier: CA7840075

Gene: ABCA3

Linked Data

• dbSNP Id: rs749245361
• ExAC: 16:2328452 TACC / T
• gnomAD v2: 16-2328452-TACC-T
• gnomAD v4: 16-2278451-TACC-T
• MyVariant Identifiers: chr16:g.2328453_2328455del (hg19) ; chr16:g.2278452_2278454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278457_2278459del , CM000678.2:g.2278457_2278459del	GRCh38
NC_000016.9:g.2328458_2328460del , CM000678.1:g.2328458_2328460del	GRCh37
NC_000016.8:g.2268459_2268461del	NCBI36
NG_011790.1:g.67293_67295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4552_4554del
ENST00000301732.9:c.4552_4554del
ENST00000382381.7:c.4378_4380del
ENST00000566200.1:n.1073_1075del
NM_001089.2:c.4552_4554del
NM_001089.3:c.4552_4554del