Canonical Allele Identifier: CA2202178538

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs2093759174

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340473_2340474insC , CM000678.2:g.2340473_2340474insC	GRCh38
NC_000016.9:g.2390474_2390475insC , CM000678.1:g.2390474_2390475insC	GRCh37
NC_000016.8:g.2330475_2330476insC	NCBI36
NG_011790.1:g.5273_5274insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+99_-539+100insG (ABCA3) MANE Select	ENSP00000301732.5:n.-539+99_-539+100insG
ENST00000640929.1:n.42+1142_42+1143insC (ABCA17P)
ENST00000301732.9:c.-539+99_-539+100insG (ABCA3)	ENSP00000301732.5:n.-539+99_-539+100insG
ENST00000382381.7:c.-539+99_-539+100insG (ABCA3)	ENSP00000371818.3:n.-539+99_-539+100insG
ENST00000512848.5:n.182+1142_182+1143insC (ABCA17P)
ENST00000563623.5:n.25+99_25+100insG (ABCA3)
NM_001089.2:c.-539+99_-539+100insG (ABCA3)	NP_001080.2:n.-539+99_-539+100insG
NM_001089.3:c.-539+99_-539+100insG (ABCA3) MANE Select	NP_001080.2:n.-539+99_-539+100insG