Canonical Allele Identifier: CA2202165480

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315395_2315398delinsCATT , CM000678.2:g.2315395_2315398delinsCATT	GRCh38
NC_000016.9:g.2365396_2365399delinsCATT , CM000678.1:g.2365396_2365399delinsCATT	GRCh37
NC_000016.8:g.2305397_2305400delinsCATT	NCBI36
NG_011790.1:g.30349_30352delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+1885_1111+1888delinsAATG MANE Select	ENSP00000301732.5:n.1111+1885_1111+1888delinsAATG
ENST00000301732.9:c.1111+1885_1111+1888delinsAATG	ENSP00000301732.5:n.1111+1885_1111+1888delinsAATG
ENST00000382381.7:c.1111+1885_1111+1888delinsAATG	ENSP00000371818.3:n.1111+1885_1111+1888delinsAATG
ENST00000563623.5:n.1674+1885_1674+1888delinsAATG
NM_001089.2:c.1111+1885_1111+1888delinsAATG	NP_001080.2:n.1111+1885_1111+1888delinsAATG
NM_001089.3:c.1111+1885_1111+1888delinsAATG MANE Select	NP_001080.2:n.1111+1885_1111+1888delinsAATG