Canonical Allele Identifier: CA718456837

Gene: IFT140

Linked Data

• dbSNP Id: rs1160859649
• gnomAD v3: 16-1584421-CTTCA-C
• gnomAD v4: 16-1584421-CTTCA-C
• MyVariant Identifiers: chr16:g.1634423_1634426del (hg19) ; chr16:g.1584422_1584425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584424_1584427del , CM000678.2:g.1584424_1584427del	GRCh38
NC_000016.9:g.1634425_1634428del , CM000678.1:g.1634425_1634428del	GRCh37
NC_000016.8:g.1574426_1574429del	NCBI36
NG_032783.1:g.32684_32687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1156-5_1156-2del MANE Select	ENSP00000406012.2:n.1156-5_1156-2del
ENST00000397417.6:c.329-5_329-2del	ENSP00000380562.2:n.329-5_329-2del
ENST00000426508.6:c.1156-5_1156-2del	ENSP00000406012.2:n.1156-5_1156-2del
ENST00000439987.6:n.1217-5_1217-2del
NM_014714.3:c.1156-5_1156-2del	NP_055529.2:n.1156-5_1156-2del
XM_005255725.3:c.1156-5_1156-2del	XP_005255782.1:n.1156-5_1156-2del
XM_005255726.2:c.1156-5_1156-2del	XP_005255783.1:n.1156-5_1156-2del
XM_006720989.2:c.1156-5_1156-2del	XP_006721052.1:n.1156-5_1156-2del
XM_006720990.2:c.1156-5_1156-2del	XP_006721053.1:n.1156-5_1156-2del
XM_006720991.2:c.1156-5_1156-2del	XP_006721054.1:n.1156-5_1156-2del
XM_011522766.1:c.1156-5_1156-2del	XP_011521068.1:n.1156-5_1156-2del
XM_011522767.1:c.181-5_181-2del	XP_011521069.1:n.181-5_181-2del
XM_011522768.1:c.1156-5_1156-2del	XP_011521070.1:n.1156-5_1156-2del
XM_011522769.1:c.1156-5_1156-2del	XP_011521071.1:n.1156-5_1156-2del
XM_011522771.1:c.1156-5_1156-2del	XP_011521073.1:n.1156-5_1156-2del
XM_011522772.1:c.1156-5_1156-2del	XP_011521074.1:n.1156-5_1156-2del
NR_135176.1:n.59+3839_59+3842del
XM_005255725.5:c.1156-5_1156-2del	XP_005255782.1:n.1156-5_1156-2del
XM_005255726.4:c.1156-5_1156-2del	XP_005255783.1:n.1156-5_1156-2del
XM_006720990.3:c.1156-5_1156-2del	XP_006721053.1:n.1156-5_1156-2del
XM_006720991.3:c.1156-5_1156-2del	XP_006721054.1:n.1156-5_1156-2del
XM_011522766.3:c.1156-5_1156-2del	XP_011521068.1:n.1156-5_1156-2del
XM_011522767.2:c.181-5_181-2del	XP_011521069.1:n.181-5_181-2del
XM_011522769.3:c.1156-5_1156-2del	XP_011521071.1:n.1156-5_1156-2del
XM_011522771.3:c.1156-5_1156-2del	XP_011521073.1:n.1156-5_1156-2del
XM_011522772.3:c.1156-5_1156-2del	XP_011521074.1:n.1156-5_1156-2del
XM_017023910.1:c.1156-5_1156-2del	XP_016879399.1:n.1156-5_1156-2del
XM_017023911.1:c.-542-5_-542-2del	XP_016879400.1:n.-542-5_-542-2del
NM_014714.4:c.1156-5_1156-2del MANE Select	NP_055529.2:n.1156-5_1156-2del