Canonical Allele Identifier: CA2610806184

Gene: SFR1

Linked Data

• gnomAD v4: 10-104124198-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124198_104124199insT , CM000672.2:g.104124198_104124199insT	GRCh38
NC_000010.10:g.105883956_105883957insT , CM000672.1:g.105883956_105883957insT	GRCh37
NC_000010.9:g.105873946_105873947insT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369727.4:c.546+74_546+75insT MANE Select	ENSP00000358742.3:n.546+74_546+75insT
ENST00000369727.3:c.546+74_546+75insT	ENSP00000358742.3:n.546+74_546+75insT
ENST00000369729.7:c.507+74_507+75insT	ENSP00000358744.3:n.507+74_507+75insT
NM_001002759.1:c.546+74_546+75insT	NP_001002759.1:n.546+74_546+75insT
NM_145247.4:c.507+74_507+75insT	NP_660290.3:n.507+74_507+75insT
XM_005269521.2:c.732+74_732+75insT	XP_005269578.1:n.732+74_732+75insT
XM_005269521.3:c.732+74_732+75insT	XP_005269578.1:n.732+74_732+75insT
XM_017015672.1:c.507+74_507+75insT	XP_016871161.1:n.507+74_507+75insT
NM_001002759.2:c.546+74_546+75insT MANE Select	NP_001002759.1:n.546+74_546+75insT
NM_001384829.1:c.507+74_507+75insT	NP_001371758.1:n.507+74_507+75insT
NM_001384830.1:c.507+74_507+75insT	NP_001371759.1:n.507+74_507+75insT
NM_145247.5:c.507+74_507+75insT	NP_660290.3:n.507+74_507+75insT