Canonical Allele Identifier: CA2741460176

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317581_2317589del , CM000678.2:g.2317581_2317589del	GRCh38
NC_000016.9:g.2367582_2367590del , CM000678.1:g.2367582_2367590del	GRCh37
NC_000016.8:g.2307583_2307591del	NCBI36
NG_011790.1:g.28158_28166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.990+59_990+67del MANE Select	ENSP00000301732.5:n.990+59_990+67del
ENST00000301732.9:c.990+59_990+67del	ENSP00000301732.5:n.990+59_990+67del
ENST00000382381.7:c.990+59_990+67del	ENSP00000371818.3:n.990+59_990+67del
ENST00000563623.5:n.1553+59_1553+67del
NM_001089.2:c.990+59_990+67del	NP_001080.2:n.990+59_990+67del
NM_001089.3:c.990+59_990+67del MANE Select	NP_001080.2:n.990+59_990+67del