Canonical Allele Identifier: CA1933463688

Gene: SFR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124313_104124323delinsCTTTTTAAGAA , CM000672.2:g.104124313_104124323delinsCTTTTTAAGAA	GRCh38
NC_000010.10:g.105884071_105884081delinsCTTTTTAAGAA , CM000672.1:g.105884071_105884081delinsCTTTTTAAGAA	GRCh37
NC_000010.9:g.105874061_105874071delinsCTTTTTAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369727.4:c.546+189_546+199delinsCTTTTTAAGAA MANE Select	ENSP00000358742.3:n.546+189_546+199delinsCTTTTTAAGAA
ENST00000369727.3:c.546+189_546+199delinsCTTTTTAAGAA	ENSP00000358742.3:n.546+189_546+199delinsCTTTTTAAGAA
ENST00000369729.7:c.507+189_507+199delinsCTTTTTAAGAA	ENSP00000358744.3:n.507+189_507+199delinsCTTTTTAAGAA
NM_001002759.1:c.546+189_546+199delinsCTTTTTAAGAA	NP_001002759.1:n.546+189_546+199delinsCTTTTTAAGAA
NM_145247.4:c.507+189_507+199delinsCTTTTTAAGAA	NP_660290.3:n.507+189_507+199delinsCTTTTTAAGAA
XM_005269521.2:c.732+189_732+199delinsCTTTTTAAGAA	XP_005269578.1:n.732+189_732+199delinsCTTTTTAAGAA
XM_005269521.3:c.732+189_732+199delinsCTTTTTAAGAA	XP_005269578.1:n.732+189_732+199delinsCTTTTTAAGAA
XM_017015672.1:c.507+189_507+199delinsCTTTTTAAGAA	XP_016871161.1:n.507+189_507+199delinsCTTTTTAAGAA
NM_001002759.2:c.546+189_546+199delinsCTTTTTAAGAA MANE Select	NP_001002759.1:n.546+189_546+199delinsCTTTTTAAGAA
NM_001384829.1:c.507+189_507+199delinsCTTTTTAAGAA	NP_001371758.1:n.507+189_507+199delinsCTTTTTAAGAA
NM_001384830.1:c.507+189_507+199delinsCTTTTTAAGAA	NP_001371759.1:n.507+189_507+199delinsCTTTTTAAGAA
NM_145247.5:c.507+189_507+199delinsCTTTTTAAGAA	NP_660290.3:n.507+189_507+199delinsCTTTTTAAGAA