Canonical Allele Identifier: CA7812967

Gene: IFT140

Linked Data

• ClinVar Variation Id: 266103
• ClinVar RCV Id: RCV000256471 ; RCV000386105 ; RCV001795477 ; RCV004021042
• dbSNP Id: rs746697405
• ExAC: 16:1569961 TCTTGGC / T
• gnomAD v2: 16-1569961-TCTTGGC-T
• gnomAD v3: 16-1519960-TCTTGGC-T
• gnomAD v4: 16-1519960-TCTTGGC-T
• MyVariant Identifiers: chr16:g.1569962_1569967del (hg19) ; chr16:g.1519962_1519967del (hg38) ; chr16:g.1519961_1519966del (hg38)
• PubMed: PMID:27894351

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519974_1519979del , CM000678.2:g.1519974_1519979del	GRCh38
NC_000016.9:g.1569975_1569980del , CM000678.1:g.1569975_1569980del	GRCh37
NC_000016.8:g.1509976_1509981del	NCBI36
NG_032783.1:g.97143_97148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3955_3960del MANE Select	ENSP00000406012.2:p.Ala1319_Lys1320del
ENST00000361339.9:c.1537_1542del	ENSP00000354895.5:p.Ala513_Lys514del
ENST00000397417.6:c.*2393_*2398del	ENSP00000380562.2:n.*2393_*2398del
ENST00000426508.6:c.3955_3960del	ENSP00000406012.2:p.Ala1319_Lys1320del
ENST00000565298.5:n.3779_3784del
ENST00000568837.1:c.73_78del	ENSP00000458439.1:p.Ala25_Lys26del
NM_014714.3:c.3955_3960del	NP_055529.2:p.Ala1319_Lys1320del
XM_006720989.2:c.3955_3960del	XP_006721052.1:p.Ala1319_Lys1320del
XM_006720990.2:c.3955_3960del	XP_006721053.1:p.Ala1319_Lys1320del
XM_006720991.2:c.3955_3960del	XP_006721054.1:p.Ala1319_Lys1320del
XM_006720992.2:c.1588_1593del	XP_006721055.1:p.Ala530_Lys531del
XM_011522766.1:c.3709_3714del	XP_011521068.1:p.Ala1237_Lys1238del
XM_011522767.1:c.2980_2985del	XP_011521069.1:p.Ala994_Lys995del
XM_006720990.3:c.3955_3960del	XP_006721053.1:p.Ala1319_Lys1320del
XM_006720991.3:c.3955_3960del	XP_006721054.1:p.Ala1319_Lys1320del
XM_006720992.3:c.1588_1593del	XP_006721055.1:p.Ala530_Lys531del
XM_011522766.3:c.3709_3714del	XP_011521068.1:p.Ala1237_Lys1238del
XM_011522767.2:c.2980_2985del	XP_011521069.1:p.Ala994_Lys995del
XM_017023910.1:c.3955_3960del	XP_016879399.1:p.Ala1319_Lys1320del
XM_017023911.1:c.2140_2145del	XP_016879400.1:p.Ala714_Lys715del
NM_014714.4:c.3955_3960del MANE Select	NP_055529.2:p.Ala1319_Lys1320del