Canonical Allele Identifier: CA2789322823
Gene: SFR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104124182_104124183del , CM000672.2:g.104124182_104124183del GRCh38
NC_000010.10:g.105883940_105883941del , CM000672.1:g.105883940_105883941del GRCh37
NC_000010.9:g.105873930_105873931del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369727.4:c.546+58_546+59del MANE Select ENSP00000358742.3:n.546+58_546+59del
ENST00000369727.3:c.546+58_546+59del ENSP00000358742.3:n.546+58_546+59del
ENST00000369729.7:c.507+58_507+59del ENSP00000358744.3:n.507+58_507+59del
NM_001002759.1:c.546+58_546+59del NP_001002759.1:n.546+58_546+59del
NM_145247.4:c.507+58_507+59del NP_660290.3:n.507+58_507+59del
XM_005269521.2:c.732+58_732+59del XP_005269578.1:n.732+58_732+59del
XM_005269521.3:c.732+58_732+59del XP_005269578.1:n.732+58_732+59del
XM_017015672.1:c.507+58_507+59del XP_016871161.1:n.507+58_507+59del
NM_001002759.2:c.546+58_546+59del MANE Select NP_001002759.1:n.546+58_546+59del
NM_001384829.1:c.507+58_507+59del NP_001371758.1:n.507+58_507+59del
NM_001384830.1:c.507+58_507+59del NP_001371759.1:n.507+58_507+59del
NM_145247.5:c.507+58_507+59del NP_660290.3:n.507+58_507+59del