Canonical Allele Identifier: CA2631013666

Gene: IFT140

Linked Data

• gnomAD v4: 16-1566253-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566254del , CM000678.2:g.1566254del	GRCh38
NC_000016.9:g.1616255del , CM000678.1:g.1616255del	GRCh37
NC_000016.8:g.1556256del	NCBI36
NG_032783.1:g.50855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1808del MANE Select	ENSP00000406012.2:p.Asp603ValfsTer7
ENST00000397417.6:c.*360del	ENSP00000380562.2:n.*360del
ENST00000426508.6:c.1808del	ENSP00000406012.2:p.Asp603ValfsTer7
ENST00000439987.6:n.1869del
ENST00000565298.5:n.496del
NM_014714.3:c.1808del	NP_055529.2:p.Asp603ValfsTer7
XM_005255725.3:c.1808del	XP_005255782.1:p.Asp603ValfsTer7
XM_005255726.2:c.1808del	XP_005255783.1:p.Asp603ValfsTer7
XM_006720989.2:c.1808del	XP_006721052.1:p.Asp603ValfsTer7
XM_006720990.2:c.1808del	XP_006721053.1:p.Asp603ValfsTer7
XM_006720991.2:c.1808del	XP_006721054.1:p.Asp603ValfsTer7
XM_011522766.1:c.1562del	XP_011521068.1:p.Asp521ValfsTer7
XM_011522767.1:c.833del	XP_011521069.1:p.Asp278ValfsTer7
XM_011522768.1:c.1808del	XP_011521070.1:p.Asp603ValfsTer7
XM_011522769.1:c.1808del	XP_011521071.1:p.Asp603ValfsTer7
XM_011522771.1:c.1808del	XP_011521073.1:p.Asp603ValfsTer7
XM_011522772.1:c.1808del	XP_011521074.1:p.Asp603ValfsTer7
XM_005255725.5:c.1808del	XP_005255782.1:p.Asp603ValfsTer7
XM_005255726.4:c.1808del	XP_005255783.1:p.Asp603ValfsTer7
XM_006720990.3:c.1808del	XP_006721053.1:p.Asp603ValfsTer7
XM_006720991.3:c.1808del	XP_006721054.1:p.Asp603ValfsTer7
XM_011522766.3:c.1562del	XP_011521068.1:p.Asp521ValfsTer7
XM_011522767.2:c.833del	XP_011521069.1:p.Asp278ValfsTer7
XM_011522769.3:c.1808del	XP_011521071.1:p.Asp603ValfsTer7
XM_011522771.3:c.1808del	XP_011521073.1:p.Asp603ValfsTer7
XM_011522772.3:c.1808del	XP_011521074.1:p.Asp603ValfsTer7
XM_017023910.1:c.1808del	XP_016879399.1:p.Asp603ValfsTer7
XM_017023911.1:c.-8del	XP_016879400.1:n.-8del
NM_014714.4:c.1808del MANE Select	NP_055529.2:p.Asp603ValfsTer7