Canonical Allele Identifier: CA1933463740

Gene: SFR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124413_104124419delinsACAATGG , CM000672.2:g.104124413_104124419delinsACAATGG	GRCh38
NC_000010.10:g.105884171_105884177delinsACAATGG , CM000672.1:g.105884171_105884177delinsACAATGG	GRCh37
NC_000010.9:g.105874161_105874167delinsACAATGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369727.4:c.546+289_546+295delinsACAATGG MANE Select	ENSP00000358742.3:n.546+289_546+295delinsACAATGG
ENST00000369727.3:c.546+289_546+295delinsACAATGG	ENSP00000358742.3:n.546+289_546+295delinsACAATGG
ENST00000369729.7:c.507+289_507+295delinsACAATGG	ENSP00000358744.3:n.507+289_507+295delinsACAATGG
NM_001002759.1:c.546+289_546+295delinsACAATGG	NP_001002759.1:n.546+289_546+295delinsACAATGG
NM_145247.4:c.507+289_507+295delinsACAATGG	NP_660290.3:n.507+289_507+295delinsACAATGG
XM_005269521.2:c.732+289_732+295delinsACAATGG	XP_005269578.1:n.732+289_732+295delinsACAATGG
XM_005269521.3:c.732+289_732+295delinsACAATGG	XP_005269578.1:n.732+289_732+295delinsACAATGG
XM_017015672.1:c.507+289_507+295delinsACAATGG	XP_016871161.1:n.507+289_507+295delinsACAATGG
NM_001002759.2:c.546+289_546+295delinsACAATGG MANE Select	NP_001002759.1:n.546+289_546+295delinsACAATGG
NM_001384829.1:c.507+289_507+295delinsACAATGG	NP_001371758.1:n.507+289_507+295delinsACAATGG
NM_001384830.1:c.507+289_507+295delinsACAATGG	NP_001371759.1:n.507+289_507+295delinsACAATGG
NM_145247.5:c.507+289_507+295delinsACAATGG	NP_660290.3:n.507+289_507+295delinsACAATGG