Canonical Allele Identifier: CA2631188356

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278532-C-CGCTGCTGGGACA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278532_2278533insGCTGCTGGGACA , CM000678.2:g.2278532_2278533insGCTGCTGGGACA	GRCh38
NC_000016.9:g.2328533_2328534insGCTGCTGGGACA , CM000678.1:g.2328533_2328534insGCTGCTGGGACA	GRCh37
NC_000016.8:g.2268534_2268535insGCTGCTGGGACA	NCBI36
NG_011790.1:g.67214_67215insTGTCCCAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-75_4548-74insTGTCCCAGCAGC MANE Select	ENSP00000301732.5:n.4548-75_4548-74insTGTCCCAGCAGC
ENST00000301732.9:c.4548-75_4548-74insTGTCCCAGCAGC	ENSP00000301732.5:n.4548-75_4548-74insTGTCCCAGCAGC
ENST00000382381.7:c.4374-75_4374-74insTGTCCCAGCAGC	ENSP00000371818.3:n.4374-75_4374-74insTGTCCCAGCAGC
ENST00000566200.1:n.1069-75_1069-74insTGTCCCAGCAGC
NM_001089.2:c.4548-75_4548-74insTGTCCCAGCAGC	NP_001080.2:n.4548-75_4548-74insTGTCCCAGCAGC
NM_001089.3:c.4548-75_4548-74insTGTCCCAGCAGC MANE Select	NP_001080.2:n.4548-75_4548-74insTGTCCCAGCAGC