Canonical Allele Identifier: CA620390102
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs377647001
gnomAD v2: 16-2365204-T-TACACAC
gnomAD v3: 16-2315203-T-TACACAC
gnomAD v4: 16-2315203-T-TACACAC
MyVariant Identifiers: chr16:g.2365208_2365209insACACAC (hg19) chr16:g.2365204_2365205insACACAC (hg19) chr16:g.2315207_2315208insACACAC (hg38) chr16:g.2315203_2315204insACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315239_2315244dup , CM000678.2:g.2315239_2315244dup GRCh38
NC_000016.9:g.2365240_2365245dup , CM000678.1:g.2365240_2365245dup GRCh37
NC_000016.8:g.2305241_2305246dup NCBI36
NG_011790.1:g.30538_30543dup

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.1111+2074_1111+2079dup MANE Select ENSP00000301732.5:n.1111+2074_1111+2079du...
ENST00000301732.9:c.1111+2074_1111+2079dup ENSP00000301732.5:n.1111+2074_1111+2079du...
ENST00000382381.7:c.1111+2074_1111+2079dup ENSP00000371818.3:n.1111+2074_1111+2079du...
ENST00000563623.5:n.1674+2074_1674+2079dup
NM_001089.2:c.1111+2074_1111+2079dup NP_001080.2:n.1111+2074_1111+2079dup
NM_001089.3:c.1111+2074_1111+2079dup MANE Select NP_001080.2:n.1111+2074_1111+2079dup
Search 100 bp 5'
Search 100 bp 3'