Canonical Allele Identifier: CA2202146217

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278297_2278300delinsGTGA , CM000678.2:g.2278297_2278300delinsGTGA	GRCh38
NC_000016.9:g.2328298_2328301delinsGTGA , CM000678.1:g.2328298_2328301delinsGTGA	GRCh37
NC_000016.8:g.2268299_2268302delinsGTGA	NCBI36
NG_011790.1:g.67447_67450delinsTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4706_4709delinsTCAC MANE Select	ENSP00000301732.5:p.Ile1569=
ENST00000301732.9:c.4706_4709delinsTCAC	ENSP00000301732.5:p.Ile1569=
ENST00000382381.7:c.4532_4535delinsTCAC	ENSP00000371818.3:p.Ile1511=
ENST00000566200.1:n.1227_1230delinsTCAC
NM_001089.2:c.4706_4709delinsTCAC	NP_001080.2:p.Ile1569=
NM_001089.3:c.4706_4709delinsTCAC MANE Select	NP_001080.2:p.Ile1569=