Canonical Allele Identifier: CA276675966

Gene: IFT140

Linked Data

• dbSNP Id: rs943359183
• MyVariant Identifiers: chr16:g.1570729_1570743del (hg19) ; chr16:g.1520728_1520742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520731_1520745del , CM000678.2:g.1520731_1520745del	GRCh38
NC_000016.9:g.1570732_1570746del , CM000678.1:g.1570732_1570746del	GRCh37
NC_000016.8:g.1510733_1510747del	NCBI36
NG_032783.1:g.96367_96381del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3520_3534del MANE Select	ENSP00000406012.2:p.Met1174_Lys1178del
ENST00000361339.9:c.1102_1116del	ENSP00000354895.5:p.Met368_Lys372del
ENST00000397417.6:c.*1958_*1972del	ENSP00000380562.2:n.*1958_*1972del
ENST00000426508.6:c.3520_3534del	ENSP00000406012.2:p.Met1174_Lys1178del
ENST00000565298.5:n.3344_3358del
NM_014714.3:c.3520_3534del	NP_055529.2:p.Met1174_Lys1178del
XM_006720989.2:c.3520_3534del	XP_006721052.1:p.Met1174_Lys1178del
XM_006720990.2:c.3520_3534del	XP_006721053.1:p.Met1174_Lys1178del
XM_006720991.2:c.3520_3534del	XP_006721054.1:p.Met1174_Lys1178del
XM_006720992.2:c.1153_1167del	XP_006721055.1:p.Met385_Lys389del
XM_011522766.1:c.3274_3288del	XP_011521068.1:p.Met1092_Lys1096del
XM_011522767.1:c.2545_2559del	XP_011521069.1:p.Met849_Lys853del
XM_006720990.3:c.3520_3534del	XP_006721053.1:p.Met1174_Lys1178del
XM_006720991.3:c.3520_3534del	XP_006721054.1:p.Met1174_Lys1178del
XM_006720992.3:c.1153_1167del	XP_006721055.1:p.Met385_Lys389del
XM_011522766.3:c.3274_3288del	XP_011521068.1:p.Met1092_Lys1096del
XM_011522767.2:c.2545_2559del	XP_011521069.1:p.Met849_Lys853del
XM_017023910.1:c.3520_3534del	XP_016879399.1:p.Met1174_Lys1178del
XM_017023911.1:c.1705_1719del	XP_016879400.1:p.Met569_Lys573del
NM_014714.4:c.3520_3534del MANE Select	NP_055529.2:p.Met1174_Lys1178del