Canonical Allele Identifier: CA2805586508

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278556_2278557insAAACACACC , CM000678.2:g.2278556_2278557insAAACACACC	GRCh38
NC_000016.9:g.2328557_2328558insAAACACACC , CM000678.1:g.2328557_2328558insAAACACACC	GRCh37
NC_000016.8:g.2268558_2268559insAAACACACC	NCBI36
NG_011790.1:g.67196_67197insTTTGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-93_4548-92insTTTGGTGTG MANE Select	ENSP00000301732.5:n.4548-93_4548-92insTTTGGTGTG
ENST00000301732.9:c.4548-93_4548-92insTTTGGTGTG	ENSP00000301732.5:n.4548-93_4548-92insTTTGGTGTG
ENST00000382381.7:c.4374-93_4374-92insTTTGGTGTG	ENSP00000371818.3:n.4374-93_4374-92insTTTGGTGTG
ENST00000566200.1:n.1069-93_1069-92insTTTGGTGTG
NM_001089.2:c.4548-93_4548-92insTTTGGTGTG	NP_001080.2:n.4548-93_4548-92insTTTGGTGTG
NM_001089.3:c.4548-93_4548-92insTTTGGTGTG MANE Select	NP_001080.2:n.4548-93_4548-92insTTTGGTGTG