Canonical Allele Identifier: CA973789751

Gene: ABCA3

Linked Data

• gnomAD v3: 16-2337181-C-CCAAGA
• gnomAD v4: 16-2337181-C-CCAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337181_2337182insCAAGA , CM000678.2:g.2337181_2337182insCAAGA	GRCh38
NC_000016.9:g.2387182_2387183insCAAGA , CM000678.1:g.2387182_2387183insCAAGA	GRCh37
NC_000016.8:g.2327183_2327184insCAAGA	NCBI36
NG_011790.1:g.8565_8566insTCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3391_-539+3392insTCTTG MANE Select	ENSP00000301732.5:n.-539+3391_-539+3392insTCTTG
ENST00000301732.9:c.-539+3391_-539+3392insTCTTG	ENSP00000301732.5:n.-539+3391_-539+3392insTCTTG
ENST00000382381.7:c.-539+3391_-539+3392insTCTTG	ENSP00000371818.3:n.-539+3391_-539+3392insTCTTG
ENST00000563623.5:n.25+3391_25+3392insTCTTG
NM_001089.2:c.-539+3391_-539+3392insTCTTG	NP_001080.2:n.-539+3391_-539+3392insTCTTG
NM_001089.3:c.-539+3391_-539+3392insTCTTG MANE Select	NP_001080.2:n.-539+3391_-539+3392insTCTTG