Canonical Allele Identifier: CA1933463677

Gene: SFR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124304_104124305delinsCA , CM000672.2:g.104124304_104124305delinsCA	GRCh38
NC_000010.10:g.105884062_105884063delinsCA , CM000672.1:g.105884062_105884063delinsCA	GRCh37
NC_000010.9:g.105874052_105874053delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369727.4:c.546+180_546+181delinsCA MANE Select	ENSP00000358742.3:n.546+180_546+181delinsCA
ENST00000369727.3:c.546+180_546+181delinsCA	ENSP00000358742.3:n.546+180_546+181delinsCA
ENST00000369729.7:c.507+180_507+181delinsCA	ENSP00000358744.3:n.507+180_507+181delinsCA
NM_001002759.1:c.546+180_546+181delinsCA	NP_001002759.1:n.546+180_546+181delinsCA
NM_145247.4:c.507+180_507+181delinsCA	NP_660290.3:n.507+180_507+181delinsCA
XM_005269521.2:c.732+180_732+181delinsCA	XP_005269578.1:n.732+180_732+181delinsCA
XM_005269521.3:c.732+180_732+181delinsCA	XP_005269578.1:n.732+180_732+181delinsCA
XM_017015672.1:c.507+180_507+181delinsCA	XP_016871161.1:n.507+180_507+181delinsCA
NM_001002759.2:c.546+180_546+181delinsCA MANE Select	NP_001002759.1:n.546+180_546+181delinsCA
NM_001384829.1:c.507+180_507+181delinsCA	NP_001371758.1:n.507+180_507+181delinsCA
NM_001384830.1:c.507+180_507+181delinsCA	NP_001371759.1:n.507+180_507+181delinsCA
NM_145247.5:c.507+180_507+181delinsCA	NP_660290.3:n.507+180_507+181delinsCA