Canonical Allele Identifier: CA2805557712

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510996_1510997insTGGGGATCGCGCCCCAGCC , CM000678.2:g.1510996_1510997insTGGGGATCGCGCCCCAGCC	GRCh38
NC_000016.9:g.1560997_1560998insTGGGGATCGCGCCCCAGCC , CM000678.1:g.1560997_1560998insTGGGGATCGCGCCCCAGCC	GRCh37
NC_000016.8:g.1500998_1500999insTGGGGATCGCGCCCCAGCC	NCBI36
NG_032783.1:g.106112_106113insGGCTGGGGCGCGATCCCCA
NG_050910.1:g.22653_22654insTGGGGATCGCGCCCCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4336_4337insGGCTGGGGCGCGATCCCCA MANE Select	ENSP00000406012.2:p.Asp1446GlyfsTer21
ENST00000361339.9:c.1918_1919insGGCTGGGGCGCGATCCCCA	ENSP00000354895.5:p.Asp640GlyfsTer21
ENST00000397417.6:c.*2774_*2775insGGCTGGGGCGCGATCCCCA	ENSP00000380562.2:n.*2774_*2775insGGCTGGGGCGCGATCCCCA
ENST00000426508.6:c.4336_4337insGGCTGGGGCGCGATCCCCA	ENSP00000406012.2:p.Asp1446GlyfsTer21
ENST00000565298.5:n.4160_4161insGGCTGGGGCGCGATCCCCA
NM_014714.3:c.4336_4337insGGCTGGGGCGCGATCCCCA	NP_055529.2:p.Asp1446GlyfsTer21
XM_006720989.2:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_006721052.1:p.Asp1446GlyfsTer21
XM_006720990.2:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_006721053.1:p.Asp1446GlyfsTer21
XM_006720991.2:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_006721054.1:p.Asp1446GlyfsTer21
XM_006720992.2:c.1969_1970insGGCTGGGGCGCGATCCCCA	XP_006721055.1:p.Asp657GlyfsTer21
XM_011522766.1:c.4090_4091insGGCTGGGGCGCGATCCCCA	XP_011521068.1:p.Asp1364GlyfsTer21
XM_011522767.1:c.3361_3362insGGCTGGGGCGCGATCCCCA	XP_011521069.1:p.Asp1121GlyfsTer21
XM_006720990.3:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_006721053.1:p.Asp1446GlyfsTer21
XM_006720991.3:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_006721054.1:p.Asp1446GlyfsTer21
XM_006720992.3:c.1969_1970insGGCTGGGGCGCGATCCCCA	XP_006721055.1:p.Asp657GlyfsTer21
XM_011522766.3:c.4090_4091insGGCTGGGGCGCGATCCCCA	XP_011521068.1:p.Asp1364GlyfsTer21
XM_011522767.2:c.3361_3362insGGCTGGGGCGCGATCCCCA	XP_011521069.1:p.Asp1121GlyfsTer21
XM_017023910.1:c.4336_4337insGGCTGGGGCGCGATCCCCA	XP_016879399.1:p.Asp1446GlyfsTer21
XM_017023911.1:c.2521_2522insGGCTGGGGCGCGATCCCCA	XP_016879400.1:p.Asp841GlyfsTer21
NM_014714.4:c.4336_4337insGGCTGGGGCGCGATCCCCA MANE Select	NP_055529.2:p.Asp1446GlyfsTer21