Canonical Allele Identifier: CA973791732

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs2093759144
• gnomAD v3: 16-2340467-GGGCCCGAGGCCCGAGCT-G
• gnomAD v4: 16-2340467-GGGCCCGAGGCCCGAGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340472_2340488del , CM000678.2:g.2340472_2340488del	GRCh38
NC_000016.9:g.2390473_2390489del , CM000678.1:g.2390473_2390489del	GRCh37
NC_000016.8:g.2330474_2330490del	NCBI36
NG_011790.1:g.5263_5279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+89_-539+105del (ABCA3) MANE Select	ENSP00000301732.5:n.-539+89_-539+105del
ENST00000640929.1:n.42+1141_42+1157del (ABCA17P)
ENST00000301732.9:c.-539+89_-539+105del (ABCA3)	ENSP00000301732.5:n.-539+89_-539+105del
ENST00000382381.7:c.-539+89_-539+105del (ABCA3)	ENSP00000371818.3:n.-539+89_-539+105del
ENST00000512848.5:n.182+1141_182+1157del (ABCA17P)
ENST00000563623.5:n.25+89_25+105del (ABCA3)
NM_001089.2:c.-539+89_-539+105del (ABCA3)	NP_001080.2:n.-539+89_-539+105del
NM_001089.3:c.-539+89_-539+105del (ABCA3) MANE Select	NP_001080.2:n.-539+89_-539+105del