Canonical Allele Identifier: CA2631187529

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278182-CACGGGCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278185_2278192del , CM000678.2:g.2278185_2278192del	GRCh38
NC_000016.9:g.2328186_2328193del , CM000678.1:g.2328186_2328193del	GRCh37
NC_000016.8:g.2268187_2268194del	NCBI36
NG_011790.1:g.67557_67564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4718+98_4718+105del MANE Select	ENSP00000301732.5:n.4718+98_4718+105del
ENST00000301732.9:c.4718+98_4718+105del	ENSP00000301732.5:n.4718+98_4718+105del
ENST00000382381.7:c.4544+98_4544+105del	ENSP00000371818.3:n.4544+98_4544+105del
NM_001089.2:c.4718+98_4718+105del	NP_001080.2:n.4718+98_4718+105del
NM_001089.3:c.4718+98_4718+105del MANE Select	NP_001080.2:n.4718+98_4718+105del