Canonical Allele Identifier: CA212433094

Gene: SFR1

Linked Data

• dbSNP Id: rs35971177
• gnomAD v2: 10-105883957-AT-A
• gnomAD v3: 10-104124199-AT-A
• gnomAD v4: 10-104124199-AT-A
• MyVariant Identifiers: chr10:g.105883958del (hg19) ; chr10:g.104124200del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104124210del , CM000672.2:g.104124210del	GRCh38
NC_000010.10:g.105883968del , CM000672.1:g.105883968del	GRCh37
NC_000010.9:g.105873958del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369727.4:c.546+86del MANE Select	ENSP00000358742.3:n.546+86del
ENST00000369727.3:c.546+86del	ENSP00000358742.3:n.546+86del
ENST00000369729.7:c.507+86del	ENSP00000358744.3:n.507+86del
NM_001002759.1:c.546+86del	NP_001002759.1:n.546+86del
NM_145247.4:c.507+86del	NP_660290.3:n.507+86del
XM_005269521.2:c.732+86del	XP_005269578.1:n.732+86del
XM_005269521.3:c.732+86del	XP_005269578.1:n.732+86del
XM_017015672.1:c.507+86del	XP_016871161.1:n.507+86del
NM_001002759.2:c.546+86del MANE Select	NP_001002759.1:n.546+86del
NM_001384829.1:c.507+86del	NP_001371758.1:n.507+86del
NM_001384830.1:c.507+86del	NP_001371759.1:n.507+86del
NM_145247.5:c.507+86del	NP_660290.3:n.507+86del