Canonical Allele Identifier: CA1015849434

Gene: BFSP1

Linked Data

• gnomAD v3: 20-17498778-TGG-T
• gnomAD v4: 20-17498778-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17498779_17498780del , CM000682.2:g.17498779_17498780del	GRCh38
NC_000020.10:g.17479424_17479425del , CM000682.1:g.17479424_17479425del	GRCh37
NC_000020.9:g.17427424_17427425del	NCBI36
NG_012423.2:g.75441_75442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.956+40_956+41del MANE Select	ENSP00000367104.3:n.956+40_956+41del
ENST00000536626.7:c.539+40_539+41del	ENSP00000442522.1:n.539+40_539+41del
ENST00000377868.6:c.581+40_581+41del	ENSP00000367099.2:n.581+40_581+41del
ENST00000377873.7:c.956+40_956+41del	ENSP00000367104.3:n.956+40_956+41del
ENST00000536626.5:c.539+40_539+41del	ENSP00000442522.1:n.539+40_539+41del
NM_001161705.1:c.581+40_581+41del	NP_001155177.1:n.581+40_581+41del
NM_001195.4:c.956+40_956+41del	NP_001186.1:n.956+40_956+41del
NM_001278606.1:c.539+40_539+41del	NP_001265535.1:n.539+40_539+41del
NM_001278607.1:c.623+40_623+41del	NP_001265536.1:n.623+40_623+41del
NM_001278608.1:c.539+40_539+41del	NP_001265537.1:n.539+40_539+41del
XM_011529312.1:c.539+40_539+41del	XP_011527614.1:n.539+40_539+41del
XM_017028005.2:c.848+40_848+41del	XP_016883494.1:n.848+40_848+41del
NM_001195.5:c.956+40_956+41del MANE Select	NP_001186.1:n.956+40_956+41del
NM_001161705.2:c.581+40_581+41del	NP_001155177.1:n.581+40_581+41del
NM_001278606.2:c.539+40_539+41del	NP_001265535.1:n.539+40_539+41del
NM_001278607.2:c.623+40_623+41del	NP_001265536.1:n.623+40_623+41del
NM_001278608.2:c.539+40_539+41del	NP_001265537.1:n.539+40_539+41del