Canonical Allele Identifier: CA891863054

Gene: IFT140

Linked Data

• ClinVar Variation Id: 591375
• ClinVar RCV Id: RCV000722554 ; RCV001862121
• dbSNP Id: rs1567326635

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523557_1523558delinsTA , CM000678.2:g.1523557_1523558delinsTA	GRCh38
NC_000016.9:g.1573558_1573559delinsTA , CM000678.1:g.1573558_1573559delinsTA	GRCh37
NC_000016.8:g.1513559_1513560delinsTA	NCBI36
NG_032783.1:g.93551_93552delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3413_3414delinsTA MANE Select	ENSP00000406012.2:p.Gln1138Leu
ENST00000361339.9:c.995_996delinsTA	ENSP00000354895.5:p.Gln332Leu
ENST00000397417.6:c.*1851_*1852delinsTA	ENSP00000380562.2:n.*1851_*1852delinsTA
ENST00000426508.6:c.3413_3414delinsTA	ENSP00000406012.2:p.Gln1138Leu
ENST00000565298.5:n.3237_3238delinsTA
NM_014714.3:c.3413_3414delinsTA	NP_055529.2:p.Gln1138Leu
XM_006720989.2:c.3413_3414delinsTA	XP_006721052.1:p.Gln1138Leu
XM_006720990.2:c.3413_3414delinsTA	XP_006721053.1:p.Gln1138Leu
XM_006720991.2:c.3413_3414delinsTA	XP_006721054.1:p.Gln1138Leu
XM_006720992.2:c.1046_1047delinsTA	XP_006721055.1:p.Gln349Leu
XM_011522766.1:c.3167_3168delinsTA	XP_011521068.1:p.Gln1056Leu
XM_011522767.1:c.2438_2439delinsTA	XP_011521069.1:p.Gln813Leu
XM_006720990.3:c.3413_3414delinsTA	XP_006721053.1:p.Gln1138Leu
XM_006720991.3:c.3413_3414delinsTA	XP_006721054.1:p.Gln1138Leu
XM_006720992.3:c.1046_1047delinsTA	XP_006721055.1:p.Gln349Leu
XM_011522766.3:c.3167_3168delinsTA	XP_011521068.1:p.Gln1056Leu
XM_011522767.2:c.2438_2439delinsTA	XP_011521069.1:p.Gln813Leu
XM_017023910.1:c.3413_3414delinsTA	XP_016879399.1:p.Gln1138Leu
XM_017023911.1:c.1598_1599delinsTA	XP_016879400.1:p.Gln533Leu
NM_014714.4:c.3413_3414delinsTA MANE Select	NP_055529.2:p.Gln1138Leu