Canonical Allele Identifier: CA2202178454

Gene: ABCA3 ABCA17P

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340389_2340413delinsAGGAGGGGCGGGCGCGGGCGCGGCC , CM000678.2:g.2340389_2340413delinsAGGAGGGGCGGGCGCGGGCGCGGCC	GRCh38
NC_000016.9:g.2390390_2390414delinsAGGAGGGGCGGGCGCGGGCGCGGCC , CM000678.1:g.2390390_2390414delinsAGGAGGGGCGGGCGCGGGCGCGGCC	GRCh37
NC_000016.8:g.2330391_2330415delinsAGGAGGGGCGGGCGCGGGCGCGGCC	NCBI36
NG_011790.1:g.5334_5358delinsGGCCGCGCCCGCGCCCGCCCCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3) MANE Select	ENSP00000301732.5:n.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGC...
ENST00000640929.1:n.42+1058_42+1082delinsAGGAGGGGCGGGCGCGGGCGCGGCC (ABCA17P)
ENST00000301732.9:c.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3)	ENSP00000301732.5:n.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGC...
ENST00000382381.7:c.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3)	ENSP00000371818.3:n.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGC...
ENST00000512848.5:n.182+1058_182+1082delinsAGGAGGGGCGGGCGCGGGCGCGGCC (ABCA17P)
ENST00000563623.5:n.25+160_25+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3)
NM_001089.2:c.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3)	NP_001080.2:n.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCC...
NM_001089.3:c.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCCT (ABCA3) MANE Select	NP_001080.2:n.-539+160_-539+184delinsGGCCGCGCCCGCGCCCGCCCCTCC...