Canonical Allele Identifier: CA2202165466

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093713589

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315365_2315370del , CM000678.2:g.2315365_2315370del	GRCh38
NC_000016.9:g.2365366_2365371del , CM000678.1:g.2365366_2365371del	GRCh37
NC_000016.8:g.2305367_2305372del	NCBI36
NG_011790.1:g.30378_30383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+1914_1111+1919del MANE Select	ENSP00000301732.5:n.1111+1914_1111+1919del
ENST00000301732.9:c.1111+1914_1111+1919del	ENSP00000301732.5:n.1111+1914_1111+1919del
ENST00000382381.7:c.1111+1914_1111+1919del	ENSP00000371818.3:n.1111+1914_1111+1919del
ENST00000563623.5:n.1674+1914_1674+1919del
NM_001089.2:c.1111+1914_1111+1919del	NP_001080.2:n.1111+1914_1111+1919del
NM_001089.3:c.1111+1914_1111+1919del MANE Select	NP_001080.2:n.1111+1914_1111+1919del