Canonical Allele Identifier: CA1933463741
Gene: SFR1 HGNC NCBI

Linked Data

dbSNP Id: rs2087003882

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104124414_104124419del , CM000672.2:g.104124414_104124419del GRCh38
NC_000010.10:g.105884172_105884177del , CM000672.1:g.105884172_105884177del GRCh37
NC_000010.9:g.105874162_105874167del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369727.4:c.546+290_546+295del MANE Select ENSP00000358742.3:n.546+290_546+295del
ENST00000369727.3:c.546+290_546+295del ENSP00000358742.3:n.546+290_546+295del
ENST00000369729.7:c.507+290_507+295del ENSP00000358744.3:n.507+290_507+295del
NM_001002759.1:c.546+290_546+295del NP_001002759.1:n.546+290_546+295del
NM_145247.4:c.507+290_507+295del NP_660290.3:n.507+290_507+295del
XM_005269521.2:c.732+290_732+295del XP_005269578.1:n.732+290_732+295del
XM_005269521.3:c.732+290_732+295del XP_005269578.1:n.732+290_732+295del
XM_017015672.1:c.507+290_507+295del XP_016871161.1:n.507+290_507+295del
NM_001002759.2:c.546+290_546+295del MANE Select NP_001002759.1:n.546+290_546+295del
NM_001384829.1:c.507+290_507+295del NP_001371758.1:n.507+290_507+295del
NM_001384830.1:c.507+290_507+295del NP_001371759.1:n.507+290_507+295del
NM_145247.5:c.507+290_507+295del NP_660290.3:n.507+290_507+295del