Canonical Allele Identifier: CA2607741503

Gene: ABCA3 ABCA17P

Linked Data

• dbSNP Id: rs2141757210
• gnomAD v4: 16-2340586-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2340590del , CM000678.2:g.2340590del	GRCh38
NC_000016.9:g.2390591del , CM000678.1:g.2390591del	GRCh37
NC_000016.8:g.2330592del	NCBI36
NG_011790.1:g.5160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-553del (ABCA3) MANE Select	ENSP00000301732.5:n.-553del
ENST00000640929.1:n.42+1259del (ABCA17P)
ENST00000301732.9:c.-553del (ABCA3)	ENSP00000301732.5:n.-553del
ENST00000382381.7:c.-553del (ABCA3)	ENSP00000371818.3:n.-553del
ENST00000512848.5:n.182+1259del (ABCA17P)
ENST00000563623.5:n.11del (ABCA3)
NM_001089.2:c.-553del (ABCA3)	NP_001080.2:n.-553del
NM_001089.3:c.-553del (ABCA3) MANE Select	NP_001080.2:n.-553del