Canonical Allele Identifier: CA719188399
Gene: ABCA3 HGNC NCBI
ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs1289793527
gnomAD v3: 16-2340627-C-CCTCCCTCGGCCACCCGGGCTCCG
gnomAD v4: 16-2340627-C-CCTCCCTCGGCCACCCGGGCTCCG
MyVariant Identifiers: chr16:g.2390628_2390629insCTCCCTCGGCCACCCGGGCTCCG (hg19) chr16:g.2340627_2340628insCTCCCTCGGCCACCCGGGCTCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340632_2340654dup , CM000678.2:g.2340632_2340654dup GRCh38
NC_000016.9:g.2390633_2390655dup , CM000678.1:g.2390633_2390655dup GRCh37
NC_000016.8:g.2330634_2330656dup NCBI36
NG_011790.1:g.5097_5119dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-616_-594dup (ABCA3) MANE Select ENSP00000301732.5:n.-616_-594dup
ENST00000640929.1:n.42+1301_42+1323dup (ABCA17P)
ENST00000301732.9:c.-616_-594dup (ABCA3) ENSP00000301732.5:n.-616_-594dup
ENST00000382381.7:c.-616_-594dup (ABCA3) ENSP00000371818.3:n.-616_-594dup
ENST00000512848.5:n.182+1301_182+1323dup (ABCA17P)
NM_001089.2:c.-616_-594dup (ABCA3) NP_001080.2:n.-616_-594dup
NM_001089.3:c.-616_-594dup (ABCA3) MANE Select NP_001080.2:n.-616_-594dup
Search 100 bp 5'
Search 100 bp 3'