Canonical Allele Identifier: CA1488878444
Gene: FABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1755648848
gnomAD v4: 4-119320520-AAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119320526_119320527del , CM000666.2:g.119320526_119320527del GRCh38
NC_000004.11:g.120241681_120241682del , CM000666.1:g.120241681_120241682del GRCh37
NC_000004.10:g.120461129_120461130del NCBI36
NG_011444.1:g.6640_6641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274024.4:c.240+148_240+149del MANE Select ENSP00000274024.3:n.240+148_240+149del
ENST00000274024.3:c.240+148_240+149del ENSP00000274024.3:n.240+148_240+149del
NM_000134.3:c.240+148_240+149del NP_000125.2:n.240+148_240+149del
NM_000134.4:c.240+148_240+149del MANE Select NP_000125.2:n.240+148_240+149del
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