Canonical Allele Identifier: CA212030

Gene: SFMBT1

Linked Data

• ClinVar Variation Id: 156849
• ClinVar RCV Id: RCV000161275 ; RCV000161277 ; RCV000161276
• MyVariant Identifiers: chr3:g.53033295_53035044del (hg19) ; chr3:g.52999279_53001028del (hg38)
• PubMed: PMID:25666259

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52999279_53001028del , CM000665.2:g.52999279_53001028del	GRCh38
NC_000003.11:g.53033295_53035044del , CM000665.1:g.53033295_53035044del	GRCh37
NC_000003.10:g.53008335_53010084del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394752.8:c.-130-31769_-130-30020del MANE Select	ENSP00000378235.2:n.-130-31769_-130-30020del
ENST00000394752.7:c.-130-31769_-130-30020del	ENSP00000378235.2:n.-130-31769_-130-30020del
ENST00000470575.5:n.444-31769_444-30020del
ENST00000474837.5:n.553+17059_553+18808del
ENST00000482396.5:c.-130-31769_-130-30020del	ENSP00000418860.1:n.-130-31769_-130-30020del
ENST00000483069.5:c.-130-31769_-130-30020del	ENSP00000418950.1:n.-130-31769_-130-30020del
ENST00000497586.5:c.-131+17059_-131+18808del	ENSP00000419215.1:n.-131+17059_-131+18808del
ENST00000607495.5:c.683+17059_683+18808del
NM_016329.3:c.-130-31769_-130-30020del	NP_057413.2:n.-130-31769_-130-30020del
XM_005265221.2:c.-130-31769_-130-30020del	XP_005265278.1:n.-130-31769_-130-30020del
XM_006713203.2:c.-130-31769_-130-30020del	XP_006713266.1:n.-130-31769_-130-30020del
XM_006713204.2:c.-130-31769_-130-30020del	XP_006713267.1:n.-130-31769_-130-30020del
XM_011533824.1:c.-130-31769_-130-30020del	XP_011532126.1:n.-130-31769_-130-30020del
XM_011533825.1:c.-130-31769_-130-30020del	XP_011532127.1:n.-130-31769_-130-30020del
XM_011534353.1:c.235_236+1748del
XM_005265221.3:c.-130-31769_-130-30020del	XP_005265278.1:n.-130-31769_-130-30020del
XM_006713203.4:c.-130-31769_-130-30020del	XP_006713266.1:n.-130-31769_-130-30020del
XM_006713204.3:c.-130-31769_-130-30020del	XP_006713267.1:n.-130-31769_-130-30020del
XM_011533824.2:c.-130-31769_-130-30020del	XP_011532126.1:n.-130-31769_-130-30020del
XM_011533825.2:c.-130-31769_-130-30020del	XP_011532127.1:n.-130-31769_-130-30020del
NM_016329.4:c.-130-31769_-130-30020del MANE Select	NP_057413.2:n.-130-31769_-130-30020del