Canonical Allele Identifier: CA1104839998
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs184387758
gnomAD v3: 7-98364076-C-A
gnomAD v4: 7-98364076-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98364076C>A , CM000669.2:g.98364076C>A GRCh38
NC_000007.13:g.97993388C>A , CM000669.1:g.97993388C>A GRCh37
NC_000007.12:g.97831324C>A NCBI36
NG_013090.1:g.42040G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000005260.9:c.52-1644G>T MANE Select ENSP00000005260.8:n.52-1644G>T
ENST00000005260.8:c.52-1644G>T ENSP00000005260.8:n.52-1644G>T
ENST00000462558.5:n.268-1644G>T
ENST00000479789.1:n.358-1644G>T
NM_018842.4:c.52-1644G>T NP_061330.2:n.52-1644G>T
NM_018842.5:c.52-1644G>T MANE Select NP_061330.2:n.52-1644G>T
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