Canonical Allele Identifier: CA276680317

Gene: IFT140

Linked Data

• dbSNP Id: rs780283268
• gnomAD v4: 16-1584128-GC-G
• MyVariant Identifiers: chr16:g.1634130del (hg19) ; chr16:g.1584129del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584130del , CM000678.2:g.1584130del	GRCh38
NC_000016.9:g.1634131del , CM000678.1:g.1634131del	GRCh37
NC_000016.8:g.1574132del	NCBI36
NG_032783.1:g.32980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1359+88del MANE Select	ENSP00000406012.2:n.1359+88del
ENST00000397417.6:c.532+88del	ENSP00000380562.2:n.532+88del
ENST00000426508.6:c.1359+88del	ENSP00000406012.2:n.1359+88del
ENST00000439987.6:n.1420+88del
ENST00000565298.5:n.47+88del
NM_014714.3:c.1359+88del	NP_055529.2:n.1359+88del
XM_005255725.3:c.1359+88del	XP_005255782.1:n.1359+88del
XM_005255726.2:c.1359+88del	XP_005255783.1:n.1359+88del
XM_006720989.2:c.1359+88del	XP_006721052.1:n.1359+88del
XM_006720990.2:c.1359+88del	XP_006721053.1:n.1359+88del
XM_006720991.2:c.1359+88del	XP_006721054.1:n.1359+88del
XM_011522766.1:c.1359+88del	XP_011521068.1:n.1359+88del
XM_011522767.1:c.384+88del	XP_011521069.1:n.384+88del
XM_011522768.1:c.1359+88del	XP_011521070.1:n.1359+88del
XM_011522769.1:c.1359+88del	XP_011521071.1:n.1359+88del
XM_011522771.1:c.1359+88del	XP_011521073.1:n.1359+88del
XM_011522772.1:c.1359+88del	XP_011521074.1:n.1359+88del
NR_135176.1:n.59+3545del
XM_005255725.5:c.1359+88del	XP_005255782.1:n.1359+88del
XM_005255726.4:c.1359+88del	XP_005255783.1:n.1359+88del
XM_006720990.3:c.1359+88del	XP_006721053.1:n.1359+88del
XM_006720991.3:c.1359+88del	XP_006721054.1:n.1359+88del
XM_011522766.3:c.1359+88del	XP_011521068.1:n.1359+88del
XM_011522767.2:c.384+88del	XP_011521069.1:n.384+88del
XM_011522769.3:c.1359+88del	XP_011521071.1:n.1359+88del
XM_011522771.3:c.1359+88del	XP_011521073.1:n.1359+88del
XM_011522772.3:c.1359+88del	XP_011521074.1:n.1359+88del
XM_017023910.1:c.1359+88del	XP_016879399.1:n.1359+88del
XM_017023911.1:c.-339+88del	XP_016879400.1:n.-339+88del
NM_014714.4:c.1359+88del MANE Select	NP_055529.2:n.1359+88del