Canonical Allele Identifier: CA7814358

Gene: IFT140

Linked Data

• dbSNP Id: rs770248429
• ExAC: 16:1634218 C / CGT
• gnomAD v2: 16-1634218-C-CGT
• gnomAD v3: 16-1584217-C-CGT
• gnomAD v4: 16-1584217-C-CGT
• MyVariant Identifiers: chr16:g.1634218_1634219insGT (hg19) ; chr16:g.1584217_1584218insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584217_1584218insGT , CM000678.2:g.1584217_1584218insGT	GRCh38
NC_000016.9:g.1634218_1634219insGT , CM000678.1:g.1634218_1634219insGT	GRCh37
NC_000016.8:g.1574219_1574220insGT	NCBI36
NG_032783.1:g.32891_32892insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1358_1359insAC MANE Select	ENSP00000406012.2:p.Asp454ArgfsTer?
ENST00000397417.6:c.531_532insAC	ENSP00000380562.2:p.Gly178ThrfsTer?
ENST00000426508.6:c.1358_1359insAC	ENSP00000406012.2:p.Asp454ArgfsTer?
ENST00000439987.6:n.1419_1420insAC
ENST00000565298.5:n.46_47insAC
NM_014714.3:c.1358_1359insAC	NP_055529.2:p.Asp454ArgfsTer?
XM_005255725.3:c.1358_1359insAC	XP_005255782.1:p.Asp454ArgfsTer?
XM_005255726.2:c.1358_1359insAC	XP_005255783.1:p.Asp454ArgfsTer?
XM_006720989.2:c.1358_1359insAC	XP_006721052.1:p.Asp454ArgfsTer?
XM_006720990.2:c.1358_1359insAC	XP_006721053.1:p.Asp454ArgfsTer?
XM_006720991.2:c.1358_1359insAC	XP_006721054.1:p.Asp454ArgfsTer?
XM_011522766.1:c.1358_1359insAC	XP_011521068.1:p.Asp454ArgfsTer?
XM_011522767.1:c.383_384insAC	XP_011521069.1:p.Asp129ArgfsTer?
XM_011522768.1:c.1358_1359insAC	XP_011521070.1:p.Asp454ArgfsTer?
XM_011522769.1:c.1358_1359insAC	XP_011521071.1:p.Asp454ArgfsTer?
XM_011522771.1:c.1358_1359insAC	XP_011521073.1:p.Asp454ArgfsTer?
XM_011522772.1:c.1358_1359insAC	XP_011521074.1:p.Asp454ArgfsTer?
NR_135176.1:n.59+3632_59+3633insGT
XM_005255725.5:c.1358_1359insAC	XP_005255782.1:p.Asp454ArgfsTer?
XM_005255726.4:c.1358_1359insAC	XP_005255783.1:p.Asp454ArgfsTer?
XM_006720990.3:c.1358_1359insAC	XP_006721053.1:p.Asp454ArgfsTer?
XM_006720991.3:c.1358_1359insAC	XP_006721054.1:p.Asp454ArgfsTer?
XM_011522766.3:c.1358_1359insAC	XP_011521068.1:p.Asp454ArgfsTer?
XM_011522767.2:c.383_384insAC	XP_011521069.1:p.Asp129ArgfsTer?
XM_011522769.3:c.1358_1359insAC	XP_011521071.1:p.Asp454ArgfsTer?
XM_011522771.3:c.1358_1359insAC	XP_011521073.1:p.Asp454ArgfsTer?
XM_011522772.3:c.1358_1359insAC	XP_011521074.1:p.Asp454ArgfsTer?
XM_017023910.1:c.1358_1359insAC	XP_016879399.1:p.Asp454ArgfsTer?
XM_017023911.1:c.-340_-339insAC	XP_016879400.1:n.-340_-339insAC
NM_014714.4:c.1358_1359insAC MANE Select	NP_055529.2:p.Asp454ArgfsTer?