Canonical Allele Identifier: CA2575883046

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326435_2326439del , CM000678.2:g.2326435_2326439del	GRCh38
NC_000016.9:g.2376436_2376440del , CM000678.1:g.2376436_2376440del	GRCh37
NC_000016.8:g.2316437_2316441del	NCBI36
NG_011790.1:g.19310_19314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.30_34del MANE Select	ENSP00000301732.5:p.Leu11GlufsTer?
ENST00000301732.9:c.30_34del	ENSP00000301732.5:p.Leu11GlufsTer?
ENST00000382381.7:c.30_34del	ENSP00000371818.3:p.Leu11GlufsTer?
ENST00000563623.5:n.593_597del
ENST00000567910.1:c.30_34del	ENSP00000454397.1:p.Leu11GlufsTer?
NM_001089.2:c.30_34del	NP_001080.2:p.Leu11GlufsTer?
NM_001089.3:c.30_34del MANE Select	NP_001080.2:p.Leu11GlufsTer?