Canonical Allele Identifier: CA620701196

Gene: IFT140

Linked Data

• dbSNP Id: rs1490261794
• gnomAD v2: 16-1570741-CA-C
• gnomAD v3: 16-1520740-CA-C
• gnomAD v4: 16-1520740-CA-C
• MyVariant Identifiers: chr16:g.1570742del (hg19) ; chr16:g.1520741del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520741del , CM000678.2:g.1520741del	GRCh38
NC_000016.9:g.1570742del , CM000678.1:g.1570742del	GRCh37
NC_000016.8:g.1510743del	NCBI36
NG_032783.1:g.96368del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3521del MANE Select	ENSP00000406012.2:p.Met1174ArgfsTer22
ENST00000361339.9:c.1103del	ENSP00000354895.5:p.Met368ArgfsTer22
ENST00000397417.6:c.*1959del	ENSP00000380562.2:n.*1959del
ENST00000426508.6:c.3521del	ENSP00000406012.2:p.Met1174ArgfsTer22
ENST00000565298.5:n.3345del
NM_014714.3:c.3521del	NP_055529.2:p.Met1174ArgfsTer22
XM_006720989.2:c.3521del	XP_006721052.1:p.Met1174ArgfsTer22
XM_006720990.2:c.3521del	XP_006721053.1:p.Met1174ArgfsTer22
XM_006720991.2:c.3521del	XP_006721054.1:p.Met1174ArgfsTer22
XM_006720992.2:c.1154del	XP_006721055.1:p.Met385ArgfsTer22
XM_011522766.1:c.3275del	XP_011521068.1:p.Met1092ArgfsTer22
XM_011522767.1:c.2546del	XP_011521069.1:p.Met849ArgfsTer22
XM_006720990.3:c.3521del	XP_006721053.1:p.Met1174ArgfsTer22
XM_006720991.3:c.3521del	XP_006721054.1:p.Met1174ArgfsTer22
XM_006720992.3:c.1154del	XP_006721055.1:p.Met385ArgfsTer22
XM_011522766.3:c.3275del	XP_011521068.1:p.Met1092ArgfsTer22
XM_011522767.2:c.2546del	XP_011521069.1:p.Met849ArgfsTer22
XM_017023910.1:c.3521del	XP_016879399.1:p.Met1174ArgfsTer22
XM_017023911.1:c.1706del	XP_016879400.1:p.Met569ArgfsTer22
NM_014714.4:c.3521del MANE Select	NP_055529.2:p.Met1174ArgfsTer22