Canonical Allele Identifier: CA50434894
Gene: BOLA3 HGNC NCBI

Linked Data

dbSNP Id: rs371692910
gnomAD v2: 2-74372250-AC-A
gnomAD v3: 2-74145123-AC-A
gnomAD v4: 2-74145123-AC-A
MyVariant Identifiers: chr2:g.74372251del (hg19) chr2:g.74145124del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145126del , CM000664.2:g.74145126del GRCh38
NC_000002.11:g.74372253del , CM000664.1:g.74372253del GRCh37
NC_000002.10:g.74225761del NCBI36
NG_031910.1:g.7789del

Transcript Alleles

HGVS Amino-acid change
ENST00000327428.10:c.169+65del MANE Select ENSP00000331369.5:n.169+65del
ENST00000295326.4:c.169+65del ENSP00000295326.4:n.169+65del
ENST00000327428.9:c.169+65del ENSP00000331369.5:n.169+65del
ENST00000469676.1:n.1192+65del
ENST00000477685.5:n.320+65del
ENST00000484655.1:n.2724+65del
NM_001035505.1:c.169+65del NP_001030582.1:n.169+65del
NM_212552.2:c.169+65del NP_997717.2:n.169+65del
NM_212552.3:c.169+65del MANE Select NP_997717.2:n.169+65del
NM_001035505.2:c.169+65del NP_001030582.1:n.169+65del
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