Canonical Allele Identifier: CA620708306

Gene: ABCA3

Linked Data

• dbSNP Id: rs1225948807
• gnomAD v2: 16-2328595-CTG-C
• gnomAD v3: 16-2278594-CTG-C
• gnomAD v4: 16-2278594-CTG-C
• MyVariant Identifiers: chr16:g.2328596_2328597del (hg19) ; chr16:g.2278595_2278596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278601_2278602del , CM000678.2:g.2278601_2278602del	GRCh38
NC_000016.9:g.2328602_2328603del , CM000678.1:g.2328602_2328603del	GRCh37
NC_000016.8:g.2268603_2268604del	NCBI36
NG_011790.1:g.67151_67152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-138_4548-137del MANE Select	ENSP00000301732.5:n.4548-138_4548-137del
ENST00000301732.9:c.4548-138_4548-137del	ENSP00000301732.5:n.4548-138_4548-137del
ENST00000382381.7:c.4374-138_4374-137del	ENSP00000371818.3:n.4374-138_4374-137del
ENST00000566200.1:n.1069-138_1069-137del
NM_001089.2:c.4548-138_4548-137del	NP_001080.2:n.4548-138_4548-137del
NM_001089.3:c.4548-138_4548-137del MANE Select	NP_001080.2:n.4548-138_4548-137del