Canonical Allele Identifier: CA620700904

Gene: IFT140

Linked Data

• dbSNP Id: rs1221089385
• gnomAD v2: 16-1573587-A-ACACT
• gnomAD v3: 16-1523586-A-ACACT
• gnomAD v4: 16-1523586-A-ACACT
• MyVariant Identifiers: chr16:g.1573587_1573588insCACT (hg19) ; chr16:g.1523586_1523587insCACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523586_1523587insCACT , CM000678.2:g.1523586_1523587insCACT	GRCh38
NC_000016.9:g.1573587_1573588insCACT , CM000678.1:g.1573587_1573588insCACT	GRCh37
NC_000016.8:g.1513588_1513589insCACT	NCBI36
NG_032783.1:g.93522_93523insAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3384_3385insAGTG MANE Select	ENSP00000406012.2:p.Cys1129SerfsTer?
ENST00000361339.9:c.966_967insAGTG	ENSP00000354895.5:p.Cys323SerfsTer?
ENST00000397417.6:c.*1822_*1823insAGTG	ENSP00000380562.2:n.*1822_*1823insAGTG
ENST00000426508.6:c.3384_3385insAGTG	ENSP00000406012.2:p.Cys1129SerfsTer?
ENST00000565298.5:n.3208_3209insAGTG
NM_014714.3:c.3384_3385insAGTG	NP_055529.2:p.Cys1129SerfsTer?
XM_006720989.2:c.3384_3385insAGTG	XP_006721052.1:p.Cys1129SerfsTer?
XM_006720990.2:c.3384_3385insAGTG	XP_006721053.1:p.Cys1129SerfsTer?
XM_006720991.2:c.3384_3385insAGTG	XP_006721054.1:p.Cys1129SerfsTer?
XM_006720992.2:c.1017_1018insAGTG	XP_006721055.1:p.Cys340SerfsTer?
XM_011522766.1:c.3138_3139insAGTG	XP_011521068.1:p.Cys1047SerfsTer?
XM_011522767.1:c.2409_2410insAGTG	XP_011521069.1:p.Cys804SerfsTer?
XM_006720990.3:c.3384_3385insAGTG	XP_006721053.1:p.Cys1129SerfsTer?
XM_006720991.3:c.3384_3385insAGTG	XP_006721054.1:p.Cys1129SerfsTer?
XM_006720992.3:c.1017_1018insAGTG	XP_006721055.1:p.Cys340SerfsTer?
XM_011522766.3:c.3138_3139insAGTG	XP_011521068.1:p.Cys1047SerfsTer?
XM_011522767.2:c.2409_2410insAGTG	XP_011521069.1:p.Cys804SerfsTer?
XM_017023910.1:c.3384_3385insAGTG	XP_016879399.1:p.Cys1129SerfsTer?
XM_017023911.1:c.1569_1570insAGTG	XP_016879400.1:p.Cys524SerfsTer?
NM_014714.4:c.3384_3385insAGTG MANE Select	NP_055529.2:p.Cys1129SerfsTer?