Canonical Allele Identifier: CA645293918

Gene: BFSP1

Linked Data

• ClinVar Variation Id: 6497
• ClinVar RCV Id: RCV000006870
• PubMed: PMID:17225135

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17497089_17500424del , CM000682.2:g.17497089_17500424del	GRCh38
NC_000020.10:g.17477734_17481069del , CM000682.1:g.17477734_17481069del	GRCh37
NC_000020.9:g.17425734_17429069del	NCBI36
NG_012423.2:g.73797_77132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377873.8:c.736-1384_957-66del
ENST00000536626.7:c.319-1384_540-66del
ENST00000377868.6:c.361-1384_582-66del
ENST00000377873.7:c.736-1384_957-66del
ENST00000536626.5:c.319-1384_540-66del
NM_001161705.1:c.361-1384_582-66del
NM_001195.4:c.736-1384_957-66del
NM_001278606.1:c.319-1384_540-66del
NM_001278607.1:c.403-1384_624-66del
NM_001278608.1:c.319-1384_540-66del
XM_011529312.1:c.319-1384_540-66del
XM_017028005.2:c.628-1384_849-66del
NM_001195.5:c.736-1384_957-66del
NM_001161705.2:c.361-1384_582-66del
NM_001278606.2:c.319-1384_540-66del
NM_001278607.2:c.403-1384_624-66del
NM_001278608.2:c.319-1384_540-66del