Canonical Allele Identifier: CA1719478

Gene: BOLA3

Linked Data

• dbSNP Id: rs756237936
• ExAC: 2:74372271 CA / C
• gnomAD v2: 2-74372271-CA-C
• gnomAD v4: 2-74145144-CA-C
• MyVariant Identifiers: chr2:g.74372272del (hg19) ; chr2:g.74145145del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74145148del , CM000664.2:g.74145148del	GRCh38
NC_000002.11:g.74372275del , CM000664.1:g.74372275del	GRCh37
NC_000002.10:g.74225783del	NCBI36
NG_031910.1:g.7768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327428.10:c.169+44del MANE Select	ENSP00000331369.5:n.169+44del
ENST00000295326.4:c.169+44del	ENSP00000295326.4:n.169+44del
ENST00000327428.9:c.169+44del	ENSP00000331369.5:n.169+44del
ENST00000469676.1:n.1192+44del
ENST00000477685.5:n.320+44del
ENST00000484655.1:n.2724+44del
NM_001035505.1:c.169+44del	NP_001030582.1:n.169+44del
NM_212552.2:c.169+44del	NP_997717.2:n.169+44del
NM_212552.3:c.169+44del MANE Select	NP_997717.2:n.169+44del
NM_001035505.2:c.169+44del	NP_001030582.1:n.169+44del