Canonical Allele Identifier: CA658799345

Gene: BFSP1

Linked Data

• ClinVar Variation Id: 541141
• ClinVar RCV Id: RCV000651349
• dbSNP Id: rs1555799947

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17494135delinsTT , CM000682.2:g.17494135delinsTT	GRCh38
NC_000020.10:g.17474780delinsTT , CM000682.1:g.17474780delinsTT	GRCh37
NC_000020.9:g.17422780delinsTT	NCBI36
NG_012423.2:g.80086delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.1937delinsAA MANE Select	ENSP00000367104.3:p.Val646GlufsTer29
ENST00000536626.7:c.1520delinsAA	ENSP00000442522.1:p.Val507GlufsTer29
ENST00000377868.6:c.1562delinsAA	ENSP00000367099.2:p.Val521GlufsTer29
ENST00000377873.7:c.1937delinsAA	ENSP00000367104.3:p.Val646GlufsTer29
ENST00000536626.5:c.1520delinsAA	ENSP00000442522.1:p.Val507GlufsTer29
NM_001161705.1:c.1562delinsAA	NP_001155177.1:p.Val521GlufsTer29
NM_001195.4:c.1937delinsAA	NP_001186.1:p.Val646GlufsTer29
NM_001278606.1:c.1520delinsAA	NP_001265535.1:p.Val507GlufsTer29
NM_001278607.1:c.1604delinsAA	NP_001265536.1:p.Val535GlufsTer29
NM_001278608.1:c.1520delinsAA	NP_001265537.1:p.Val507GlufsTer29
XM_011529312.1:c.1520delinsAA	XP_011527614.1:p.Val507GlufsTer29
XM_017028005.2:c.1829delinsAA	XP_016883494.1:p.Val610GlufsTer29
NM_001195.5:c.1937delinsAA MANE Select	NP_001186.1:p.Val646GlufsTer29
NM_001161705.2:c.1562delinsAA	NP_001155177.1:p.Val521GlufsTer29
NM_001278606.2:c.1520delinsAA	NP_001265535.1:p.Val507GlufsTer29
NM_001278607.2:c.1604delinsAA	NP_001265536.1:p.Val535GlufsTer29
NM_001278608.2:c.1520delinsAA	NP_001265537.1:p.Val507GlufsTer29