Canonical Allele Identifier: CA2741460175

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317577_2317579del , CM000678.2:g.2317577_2317579del	GRCh38
NC_000016.9:g.2367578_2367580del , CM000678.1:g.2367578_2367580del	GRCh37
NC_000016.8:g.2307579_2307581del	NCBI36
NG_011790.1:g.28168_28170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.990+69_990+71del MANE Select	ENSP00000301732.5:n.990+69_990+71del
ENST00000301732.9:c.990+69_990+71del	ENSP00000301732.5:n.990+69_990+71del
ENST00000382381.7:c.990+69_990+71del	ENSP00000371818.3:n.990+69_990+71del
ENST00000563623.5:n.1553+69_1553+71del
NM_001089.2:c.990+69_990+71del	NP_001080.2:n.990+69_990+71del
NM_001089.3:c.990+69_990+71del MANE Select	NP_001080.2:n.990+69_990+71del