Canonical Allele Identifier: CA2202166865

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317800_2317808delinsTCACTGCCC , CM000678.2:g.2317800_2317808delinsTCACTGCCC	GRCh38
NC_000016.9:g.2367801_2367809delinsTCACTGCCC , CM000678.1:g.2367801_2367809delinsTCACTGCCC	GRCh37
NC_000016.8:g.2307802_2307810delinsTCACTGCCC	NCBI36
NG_011790.1:g.27939_27947delinsGGGCAGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.874-44_874-36delinsGGGCAGTGA MANE Select	ENSP00000301732.5:n.874-44_874-36delinsGGGCAGTGA
ENST00000301732.9:c.874-44_874-36delinsGGGCAGTGA	ENSP00000301732.5:n.874-44_874-36delinsGGGCAGTGA
ENST00000382381.7:c.874-44_874-36delinsGGGCAGTGA	ENSP00000371818.3:n.874-44_874-36delinsGGGCAGTGA
ENST00000563623.5:n.1437-44_1437-36delinsGGGCAGTGA
NM_001089.2:c.874-44_874-36delinsGGGCAGTGA	NP_001080.2:n.874-44_874-36delinsGGGCAGTGA
NM_001089.3:c.874-44_874-36delinsGGGCAGTGA MANE Select	NP_001080.2:n.874-44_874-36delinsGGGCAGTGA