Canonical Allele Identifier: CA2529591992

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315457_2315458insCGTTTCTGTATCTTCTAAATCAACTGCTAAATGGTTGCTTCCATAATCATTTTTATCATGAATATAATCAATAGCAGCTCTGGCATGCCAGTAAGCAGGCCCATCTGAACCG , CM000678.2:g.2315457_2315458insCGTTTCTGTATCTTCTAAATCAACTGCTAAATGGTTGCTTCCATAATCATTTTTATCATGAATATAATCAATAGCAGCTCTGGCATGCCAGTAAGCAGGCCCATCTGAACCG	GRCh38
NC_000016.9:g.2365458_2365459insCGTTTCTGTATCTTCTAAATCAACTGCTAAATGGTTGCTTCCATAATCATTTTTATCATGAATATAATCAATAGCAGCTCTGGCATGCCAGTAAGCAGGCCCATCTGAACCG , CM000678.1:g.2365458_2365459insCGTTTCTGTATCTTCTAAATCAACTGCTAAATGGTTGCTTCCATAATCATTTTTATCATGAATATAATCAATAGCAGCTCTGGCATGCCAGTAAGCAGGCCCATCTGAACCG	GRCh37
NC_000016.8:g.2305459_2305460insCGTTTCTGTATCTTCTAAATCAACTGCTAAATGGTTGCTTCCATAATCATTTTTATCATGAATATAATCAATAGCAGCTCTGGCATGCCAGTAAGCAGGCCCATCTGAACCG	NCBI36
NG_011790.1:g.30289_30290insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG MANE Select	ENSP00000301732.5:n.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCT...
ENST00000301732.9:c.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG	ENSP00000301732.5:n.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCT...
ENST00000382381.7:c.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG	ENSP00000371818.3:n.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCT...
ENST00000563623.5:n.1674+1825_1674+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG
NM_001089.2:c.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG	NP_001080.2:n.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGG...
NM_001089.3:c.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGGCATGCCAGAGCTGCTATTGATTATATTCATGATAAAAATGATTATGGAAGCAACCATTTAGCAGTTGATTTAGAAGATACAGAAACG MANE Select	NP_001080.2:n.1111+1825_1111+1826insCGGTTCAGATGGGCCTGCTTACTGG...