Canonical Allele Identifier: CA7232332

Gene: CHURC1-FNTB FNTB MAX

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65006172_65006173dup , CM000676.2:g.65006172_65006173dup	GRCh38
NC_000014.8:g.65472890_65472891dup , CM000676.1:g.65472890_65472891dup	GRCh37
NC_000014.7:g.64542643_64542644dup	NCBI36
NG_029830.1:g.101352_101353dup , LRG_530:g.101352_101353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552941.6:c.240+1859_240+1860dup (CHURC1-FNTB)	ENSP00000449668.2:n.240+1859_240+1860dup
ENST00000246166.3:c.209+1859_209+1860dup (FNTB) MANE Select	ENSP00000246166.2:n.209+1859_209+1860dup
ENST00000246166.2:c.209+1859_209+1860dup (FNTB)	ENSP00000246166.2:n.209+1859_209+1860dup
ENST00000549987.1:c.311+1859_311+1860dup (CHURC1-FNTB)	ENSP00000447121.2:n.311+1859_311+1860dup
ENST00000551823.1:c.385+1859_385+1860dup (CHURC1-FNTB)	ENSP00000449709.1:n.385+1859_385+1860dup
ENST00000552941.5:c.251+1859_251+1860dup (CHURC1-FNTB)
ENST00000553743.5:c.156+1859_156+1860dup (CHURC1-FNTB)	ENSP00000450692.1:n.156+1859_156+1860dup
ENST00000555372.5:n.268+1859_268+1860dup (FNTB)
ENST00000555742.5:n.413+1859_413+1860dup (FNTB)
NM_001202558.1:c.71+1859_71+1860dup (CHURC1-FNTB)	NP_001189487.1:n.71+1859_71+1860dup
NM_001202559.1:c.392+1859_392+1860dup (CHURC1-FNTB)	NP_001189488.1:n.392+1859_392+1860dup
NM_001271069.1:c.*46_*47dup (MAX)	NP_001257998.1:n.*46_*47dup
NM_002028.3:c.209+1859_209+1860dup (FNTB)	NP_002019.1:n.209+1859_209+1860dup
NM_197957.3:c.*46_*47dup (MAX)	NP_932061.1:n.*46_*47dup
NM_002028.4:c.209+1859_209+1860dup (FNTB) MANE Select	NP_002019.1:n.209+1859_209+1860dup
NM_001202558.2:c.71+1859_71+1860dup (CHURC1-FNTB)	NP_001189487.1:n.71+1859_71+1860dup
NM_001271069.2:c.*46_*47dup (MAX)	NP_001257998.1:n.*46_*47dup
NM_197957.4:c.*46_*47dup (MAX)	NP_932061.1:n.*46_*47dup