Canonical Allele Identifier: CA2202178512

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs2093759090

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340451_2340478del , CM000678.2:g.2340451_2340478del	GRCh38
NC_000016.9:g.2390452_2390479del , CM000678.1:g.2390452_2390479del	GRCh37
NC_000016.8:g.2330453_2330480del	NCBI36
NG_011790.1:g.5274_5301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+100_-539+127del (ABCA3) MANE Select	ENSP00000301732.5:n.-539+100_-539+127del
ENST00000640929.1:n.42+1120_42+1147del (ABCA17P)
ENST00000301732.9:c.-539+100_-539+127del (ABCA3)	ENSP00000301732.5:n.-539+100_-539+127del
ENST00000382381.7:c.-539+100_-539+127del (ABCA3)	ENSP00000371818.3:n.-539+100_-539+127del
ENST00000512848.5:n.182+1120_182+1147del (ABCA17P)
ENST00000563623.5:n.25+100_25+127del (ABCA3)
NM_001089.2:c.-539+100_-539+127del (ABCA3)	NP_001080.2:n.-539+100_-539+127del
NM_001089.3:c.-539+100_-539+127del (ABCA3) MANE Select	NP_001080.2:n.-539+100_-539+127del