Canonical Allele Identifier: CA287539991
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs994363905
gnomAD v3: 17-8075380-CA-C
gnomAD v4: 17-8075380-CA-C
MyVariant Identifiers: chr17:g.7978699del (hg19) chr17:g.8075381del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075381del , CM000679.2:g.8075381del GRCh38
NC_000017.10:g.7978699del , CM000679.1:g.7978699del GRCh37
NC_000017.9:g.7919424del NCBI36
NG_007099.1:g.17323del
NG_007099.2:g.17336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1654+214del MANE Select ENSP00000497784.1:n.1654+214del
ENST00000649809.1:c.718+214del ENSP00000496845.1:n.718+214del
ENST00000319144.4:c.1654+214del ENSP00000315167.4:n.1654+214del
ENST00000577351.5:n.479+794del
NM_001139.2:c.1654+214del NP_001130.1:n.1654+214del
NM_001139.3:c.1654+214del MANE Select NP_001130.1:n.1654+214del
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Search 100 bp 3'