Canonical Allele Identifier: CA719174781

Gene: ABCA3

Linked Data

• dbSNP Id: rs750294632
• MyVariant Identifiers: chr16:g.2365204_2365205insATAC (hg19) ; chr16:g.2315203_2315204insATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315204_2315205insTACA , CM000678.2:g.2315204_2315205insTACA	GRCh38
NC_000016.9:g.2365205_2365206insTACA , CM000678.1:g.2365205_2365206insTACA	GRCh37
NC_000016.8:g.2305206_2305207insTACA	NCBI36
NG_011790.1:g.30543_30544insGTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1111+2079_1111+2080insGTAT MANE Select	ENSP00000301732.5:n.1111+2079_1111+2080in...
ENST00000301732.9:c.1111+2079_1111+2080insGTAT	ENSP00000301732.5:n.1111+2079_1111+2080in...
ENST00000382381.7:c.1111+2079_1111+2080insGTAT	ENSP00000371818.3:n.1111+2079_1111+2080in...
ENST00000563623.5:n.1674+2079_1674+2080insGTAT
NM_001089.2:c.1111+2079_1111+2080insGTAT	NP_001080.2:n.1111+2079_1111+2080insGTAT
NM_001089.3:c.1111+2079_1111+2080insGTAT MANE Select	NP_001080.2:n.1111+2079_1111+2080insGTAT