Canonical Allele Identifier: CA276668529

Gene: IFT140

Linked Data

• dbSNP Id: rs771656733
• gnomAD v2: 16-1561312-TGTG-T
• gnomAD v3: 16-1511311-TGTG-T
• gnomAD v4: 16-1511311-TGTG-T
• MyVariant Identifiers: chr16:g.1561313_1561315del (hg19) ; chr16:g.1511312_1511314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511315_1511317del , CM000678.2:g.1511315_1511317del	GRCh38
NC_000016.9:g.1561316_1561318del , CM000678.1:g.1561316_1561318del	GRCh37
NC_000016.8:g.1501317_1501319del	NCBI36
NG_032783.1:g.105795_105797del
NG_050910.1:g.22972_22974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-164_4183-162del MANE Select	ENSP00000406012.2:n.4183-164_4183-162del
ENST00000361339.9:c.1765-164_1765-162del	ENSP00000354895.5:n.1765-164_1765-162del
ENST00000397417.6:c.*2621-164_*2621-162del	ENSP00000380562.2:n.*2621-164_*2621-162del
ENST00000426508.6:c.4183-164_4183-162del	ENSP00000406012.2:n.4183-164_4183-162del
ENST00000565298.5:n.4007-164_4007-162del
NM_014714.3:c.4183-164_4183-162del	NP_055529.2:n.4183-164_4183-162del
XM_006720989.2:c.4183-164_4183-162del	XP_006721052.1:n.4183-164_4183-162del
XM_006720990.2:c.4183-164_4183-162del	XP_006721053.1:n.4183-164_4183-162del
XM_006720991.2:c.4183-164_4183-162del	XP_006721054.1:n.4183-164_4183-162del
XM_006720992.2:c.1816-164_1816-162del	XP_006721055.1:n.1816-164_1816-162del
XM_011522766.1:c.3937-164_3937-162del	XP_011521068.1:n.3937-164_3937-162del
XM_011522767.1:c.3208-164_3208-162del	XP_011521069.1:n.3208-164_3208-162del
XM_006720990.3:c.4183-164_4183-162del	XP_006721053.1:n.4183-164_4183-162del
XM_006720991.3:c.4183-164_4183-162del	XP_006721054.1:n.4183-164_4183-162del
XM_006720992.3:c.1816-164_1816-162del	XP_006721055.1:n.1816-164_1816-162del
XM_011522766.3:c.3937-164_3937-162del	XP_011521068.1:n.3937-164_3937-162del
XM_011522767.2:c.3208-164_3208-162del	XP_011521069.1:n.3208-164_3208-162del
XM_017023910.1:c.4183-164_4183-162del	XP_016879399.1:n.4183-164_4183-162del
XM_017023911.1:c.2368-164_2368-162del	XP_016879400.1:n.2368-164_2368-162del
NM_014714.4:c.4183-164_4183-162del MANE Select	NP_055529.2:n.4183-164_4183-162del