Canonical Allele Identifier: CA718375548

Gene: IFT140

Linked Data

• dbSNP Id: rs1187601268
• gnomAD v3: 16-1510520-TC-T
• gnomAD v4: 16-1510520-TC-T
• MyVariant Identifiers: chr16:g.1560522del (hg19) ; chr16:g.1510521del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510523del , CM000678.2:g.1510523del	GRCh38
NC_000016.9:g.1560524del , CM000678.1:g.1560524del	GRCh37
NC_000016.8:g.1500525del	NCBI36
NG_032783.1:g.106588del
NG_050910.1:g.22180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*423del MANE Select	ENSP00000406012.2:n.*423del
ENST00000361339.9:c.*423del	ENSP00000354895.5:n.*423del
ENST00000397417.6:c.*3250del	ENSP00000380562.2:n.*3250del
ENST00000426508.6:c.*423del	ENSP00000406012.2:n.*423del
ENST00000565298.5:n.4636del
NM_014714.3:c.*423del	NP_055529.2:n.*423del
XM_006720989.2:c.*423del	XP_006721052.1:n.*423del
XM_006720990.2:c.*423del	XP_006721053.1:n.*423del
XM_006720991.2:c.*423del	XP_006721054.1:n.*423del
XM_006720992.2:c.*423del	XP_006721055.1:n.*423del
XM_011522766.1:c.*423del	XP_011521068.1:n.*423del
XM_011522767.1:c.*423del	XP_011521069.1:n.*423del
XM_006720990.3:c.*423del	XP_006721053.1:n.*423del
XM_006720991.3:c.*423del	XP_006721054.1:n.*423del
XM_006720992.3:c.*423del	XP_006721055.1:n.*423del
XM_011522766.3:c.*423del	XP_011521068.1:n.*423del
XM_011522767.2:c.*423del	XP_011521069.1:n.*423del
XM_017023910.1:c.*423del	XP_016879399.1:n.*423del
XM_017023911.1:c.*423del	XP_016879400.1:n.*423del
NM_014714.4:c.*423del MANE Select	NP_055529.2:n.*423del