Canonical Allele Identifier: CA7813025

Gene: IFT140

Linked Data

• dbSNP Id: rs764421289
• ExAC: 16:1570166 TC / T
• gnomAD v2: 16-1570166-TC-T
• gnomAD v4: 16-1520165-TC-T
• MyVariant Identifiers: chr16:g.1570167del (hg19) ; chr16:g.1520166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520167del , CM000678.2:g.1520167del	GRCh38
NC_000016.9:g.1570168del , CM000678.1:g.1570168del	GRCh37
NC_000016.8:g.1510169del	NCBI36
NG_032783.1:g.96943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3838del MANE Select	ENSP00000406012.2:p.Asp1280ThrfsTer28
ENST00000361339.9:c.1420del	ENSP00000354895.5:p.Asp474ThrfsTer28
ENST00000397417.6:c.*2276del	ENSP00000380562.2:n.*2276del
ENST00000426508.6:c.3838del	ENSP00000406012.2:p.Asp1280ThrfsTer28
ENST00000565298.5:n.3662del
NM_014714.3:c.3838del	NP_055529.2:p.Asp1280ThrfsTer28
XM_006720989.2:c.3838del	XP_006721052.1:p.Asp1280ThrfsTer28
XM_006720990.2:c.3838del	XP_006721053.1:p.Asp1280ThrfsTer28
XM_006720991.2:c.3838del	XP_006721054.1:p.Asp1280ThrfsTer28
XM_006720992.2:c.1471del	XP_006721055.1:p.Asp491ThrfsTer28
XM_011522766.1:c.3592del	XP_011521068.1:p.Asp1198ThrfsTer28
XM_011522767.1:c.2863del	XP_011521069.1:p.Asp955ThrfsTer28
XM_006720990.3:c.3838del	XP_006721053.1:p.Asp1280ThrfsTer28
XM_006720991.3:c.3838del	XP_006721054.1:p.Asp1280ThrfsTer28
XM_006720992.3:c.1471del	XP_006721055.1:p.Asp491ThrfsTer28
XM_011522766.3:c.3592del	XP_011521068.1:p.Asp1198ThrfsTer28
XM_011522767.2:c.2863del	XP_011521069.1:p.Asp955ThrfsTer28
XM_017023910.1:c.3838del	XP_016879399.1:p.Asp1280ThrfsTer28
XM_017023911.1:c.2023del	XP_016879400.1:p.Asp675ThrfsTer28
NM_014714.4:c.3838del MANE Select	NP_055529.2:p.Asp1280ThrfsTer28