Canonical Allele Identifier: CA145188

Gene: BFSP1

Linked Data

• ClinVar Variation Id: 68470
• ClinVar RCV Id: RCV000059341 ; RCV000526207
• dbSNP Id: rs548358901
• ExAC: 20:17474720 TAA / T
• gnomAD v2: 20-17474720-TAA-T
• gnomAD v3: 20-17494075-TAA-T
• gnomAD v4: 20-17494075-TAA-T
• MyVariant Identifiers: chr20:g.17474721_17474722del (hg19) ; chr20:g.17494076_17494077del (hg38)
• PubMed: PMID:24281366

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17494076_17494077del , CM000682.2:g.17494076_17494077del	GRCh38
NC_000020.10:g.17474721_17474722del , CM000682.1:g.17474721_17474722del	GRCh37
NC_000020.9:g.17422721_17422722del	NCBI36
NG_012423.2:g.80144_80145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377873.8:c.1995_1996del MANE Select	ENSP00000367104.3:p.Ter666LysextTer8
ENST00000536626.7:c.1578_1579del	ENSP00000442522.1:p.Ter527LysextTer8
ENST00000377868.6:c.1620_1621del	ENSP00000367099.2:p.Ter541LysextTer8
ENST00000377873.7:c.1995_1996del	ENSP00000367104.3:p.Ter666LysextTer8
ENST00000536626.5:c.1578_1579del	ENSP00000442522.1:p.Ter527LysextTer8
NM_001161705.1:c.1620_1621del	NP_001155177.1:p.Ter541LysextTer8
NM_001195.4:c.1995_1996del	NP_001186.1:p.Ter666LysextTer8
NM_001278606.1:c.1578_1579del	NP_001265535.1:p.Ter527LysextTer8
NM_001278607.1:c.1662_1663del	NP_001265536.1:p.Ter555LysextTer8
NM_001278608.1:c.1578_1579del	NP_001265537.1:p.Ter527LysextTer8
XM_011529312.1:c.1578_1579del	XP_011527614.1:p.Ter527LysextTer8
XM_017028005.2:c.1887_1888del	XP_016883494.1:p.Ter630LysextTer8
NM_001195.5:c.1995_1996del MANE Select	NP_001186.1:p.Ter666LysextTer8
NM_001161705.2:c.1620_1621del	NP_001155177.1:p.Ter541LysextTer8
NM_001278606.2:c.1578_1579del	NP_001265535.1:p.Ter527LysextTer8
NM_001278607.2:c.1662_1663del	NP_001265536.1:p.Ter555LysextTer8
NM_001278608.2:c.1578_1579del	NP_001265537.1:p.Ter527LysextTer8