Canonical Allele Identifier: CA2202178522

Gene: ABCA3 ABCA17P

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340461_2340462delinsTG , CM000678.2:g.2340461_2340462delinsTG	GRCh38
NC_000016.9:g.2390462_2390463delinsTG , CM000678.1:g.2390462_2390463delinsTG	GRCh37
NC_000016.8:g.2330463_2330464delinsTG	NCBI36
NG_011790.1:g.5285_5286delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+111_-539+112delinsCA (ABCA3) MANE Select	ENSP00000301732.5:n.-539+111_-539+112delinsCA
ENST00000640929.1:n.42+1130_42+1131delinsTG (ABCA17P)
ENST00000301732.9:c.-539+111_-539+112delinsCA (ABCA3)	ENSP00000301732.5:n.-539+111_-539+112delinsCA
ENST00000382381.7:c.-539+111_-539+112delinsCA (ABCA3)	ENSP00000371818.3:n.-539+111_-539+112delinsCA
ENST00000512848.5:n.182+1130_182+1131delinsTG (ABCA17P)
ENST00000563623.5:n.25+111_25+112delinsCA (ABCA3)
NM_001089.2:c.-539+111_-539+112delinsCA (ABCA3)	NP_001080.2:n.-539+111_-539+112delinsCA
NM_001089.3:c.-539+111_-539+112delinsCA (ABCA3) MANE Select	NP_001080.2:n.-539+111_-539+112delinsCA