Canonical Allele Identifier: CA2659654006

Gene: BOLA3

Linked Data

• gnomAD v4: 2-74145137-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145140del , CM000664.2:g.74145140del	GRCh38
NC_000002.11:g.74372267del , CM000664.1:g.74372267del	GRCh37
NC_000002.10:g.74225775del	NCBI36
NG_031910.1:g.7775del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327428.10:c.169+51del MANE Select	ENSP00000331369.5:n.169+51del
ENST00000295326.4:c.169+51del	ENSP00000295326.4:n.169+51del
ENST00000327428.9:c.169+51del	ENSP00000331369.5:n.169+51del
ENST00000469676.1:n.1192+51del
ENST00000477685.5:n.320+51del
ENST00000484655.1:n.2724+51del
NM_001035505.1:c.169+51del	NP_001030582.1:n.169+51del
NM_212552.2:c.169+51del	NP_997717.2:n.169+51del
NM_212552.3:c.169+51del MANE Select	NP_997717.2:n.169+51del
NM_001035505.2:c.169+51del	NP_001030582.1:n.169+51del