Canonical Allele Identifier: CA2536151825

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315455_2315456insGCATTGATTTGTTGG , CM000678.2:g.2315455_2315456insGCATTGATTTGTTGG	GRCh38
NC_000016.9:g.2365456_2365457insGCATTGATTTGTTGG , CM000678.1:g.2365456_2365457insGCATTGATTTGTTGG	GRCh37
NC_000016.8:g.2305457_2305458insGCATTGATTTGTTGG	NCBI36
NG_011790.1:g.30291_30292insCCAACAAATCAATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+1827_1111+1828insCCAACAAATCAATGC MANE Select	ENSP00000301732.5:n.1111+1827_1111+1828insCCAACAAATCAATGC
ENST00000301732.9:c.1111+1827_1111+1828insCCAACAAATCAATGC	ENSP00000301732.5:n.1111+1827_1111+1828insCCAACAAATCAATGC
ENST00000382381.7:c.1111+1827_1111+1828insCCAACAAATCAATGC	ENSP00000371818.3:n.1111+1827_1111+1828insCCAACAAATCAATGC
ENST00000563623.5:n.1674+1827_1674+1828insCCAACAAATCAATGC
NM_001089.2:c.1111+1827_1111+1828insCCAACAAATCAATGC	NP_001080.2:n.1111+1827_1111+1828insCCAACAAATCAATGC
NM_001089.3:c.1111+1827_1111+1828insCCAACAAATCAATGC MANE Select	NP_001080.2:n.1111+1827_1111+1828insCCAACAAATCAATGC