Canonical Allele Identifier: CA2631192724

Gene: ABCA3 ABCA17P

Linked Data

• gnomAD v4: 16-2340591-CGGCGGCGGCCGGCGCGCGGCCCTCTCGCGGGGTCCCCTCCCTCGGCCACCCGGGCTCCGCTCCAGCCTCGCAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340601_2340674del , CM000678.2:g.2340601_2340674del	GRCh38
NC_000016.9:g.2390602_2390675del , CM000678.1:g.2390602_2390675del	GRCh37
NC_000016.8:g.2330603_2330676del	NCBI36
NG_011790.1:g.5082_5155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-631_-558del (ABCA3) MANE Select	ENSP00000301732.5:n.-631_-558del
ENST00000640929.1:n.42+1270_42+1343del (ABCA17P)
ENST00000301732.9:c.-631_-558del (ABCA3)	ENSP00000301732.5:n.-631_-558del
ENST00000382381.7:c.-631_-558del (ABCA3)	ENSP00000371818.3:n.-631_-558del
ENST00000512848.5:n.182+1270_182+1343del (ABCA17P)
NM_001089.2:c.-631_-558del (ABCA3)	NP_001080.2:n.-631_-558del
NM_001089.3:c.-631_-558del (ABCA3) MANE Select	NP_001080.2:n.-631_-558del