Canonical Allele Identifier: CA2695222613

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326020del , CM000678.2:g.2326020del	GRCh38
NC_000016.9:g.2376021del , CM000678.1:g.2376021del	GRCh37
NC_000016.8:g.2316022del	NCBI36
NG_011790.1:g.19727del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.309del MANE Select	ENSP00000301732.5:p.Asn104ThrfsTer?
ENST00000301732.9:c.309del	ENSP00000301732.5:p.Asn104ThrfsTer?
ENST00000382381.7:c.309del	ENSP00000371818.3:p.Asn104ThrfsTer?
ENST00000563623.5:n.872del
ENST00000567910.1:c.309del	ENSP00000454397.1:p.Asn104ThrfsTer?
NM_001089.2:c.309del	NP_001080.2:p.Asn104ThrfsTer?
NM_001089.3:c.309del MANE Select	NP_001080.2:p.Asn104ThrfsTer?