Canonical Allele Identifier: CA2573157738

Gene: FTCD

Linked Data

• ClinVar Variation Id: 1443575
• ClinVar RCV Id: RCV001955675 ; RCV002562866
• dbSNP Id: rs2123481486

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138559_46138560delinsCA , CM000683.2:g.46138559_46138560delinsCA	GRCh38
NC_000021.8:g.47558473_47558474delinsCA , CM000683.1:g.47558473_47558474delinsCA	GRCh37
NC_000021.7:g.46382901_46382902delinsCA	NCBI36
NG_016191.1:g.22008_22009delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-74_-73delinsTG	ENSP00000507070.1:n.-74_-73delinsTG
ENST00000494498.2:c.125_126delinsTG	ENSP00000507847.1:p.Ala42Val
ENST00000397746.8:c.1391_1392delinsTG MANE Select	ENSP00000380854.3:p.Ala464Val
ENST00000291670.9:c.1391_1392delinsTG	ENSP00000291670.5:p.Ala464Val
ENST00000397743.1:c.1347_1348delinsTG	ENSP00000380851.1:p.Pro450Ala
ENST00000397746.7:c.1391_1392delinsTG	ENSP00000380854.3:p.Ala464Val
ENST00000397748.5:c.1391_1392delinsTG	ENSP00000380856.1:p.Ala464Val
ENST00000446405.5:c.13_14delinsTG
ENST00000460011.5:n.720_721delinsTG
ENST00000488577.1:n.417_418delinsTG
ENST00000494498.1:n.692_693delinsTG
ENST00000498355.6:n.1460_1461delinsTG
NM_006657.2:c.1391_1392delinsTG	NP_006648.1:p.Ala464Val
NM_206965.1:c.1391_1392delinsTG	NP_996848.1:p.Ala464Val
XM_006723961.2:c.1640_1641delinsTG	XP_006724024.2:p.Ala547Val
XM_006723962.2:c.1640_1641delinsTG	XP_006724025.2:p.Ala547Val
XM_011529434.1:c.1640_1641delinsTG	XP_011527736.1:p.Ala547Val
XM_011529435.1:c.1511_1512delinsTG	XP_011527737.1:p.Ala504Val
XM_011529436.1:c.1640_1641delinsTG	XP_011527738.1:p.Ala547Val
XM_011529437.1:c.1640_1641delinsTG	XP_011527739.1:p.Ala547Val
XM_011529438.1:c.1511_1512delinsTG	XP_011527740.1:p.Ala504Val
XM_011529439.1:c.1127_1128delinsTG	XP_011527741.1:p.Ala376Val
XR_937433.1:n.1823_1824delinsTG
NM_001320412.1:c.1391_1392delinsTG	NP_001307341.1:p.Ala464Val
XM_006723961.4:c.1640_1641delinsTG	XP_006724024.2:p.Ala547Val
XM_006723962.4:c.1640_1641delinsTG	XP_006724025.2:p.Ala547Val
XM_011529434.3:c.1640_1641delinsTG	XP_011527736.1:p.Ala547Val
XM_011529435.3:c.1511_1512delinsTG	XP_011527737.1:p.Ala504Val
XM_011529436.3:c.1640_1641delinsTG	XP_011527738.1:p.Ala547Val
XM_011529437.3:c.1640_1641delinsTG	XP_011527739.1:p.Ala547Val
XM_011529439.2:c.1127_1128delinsTG	XP_011527741.1:p.Ala376Val
XR_937433.3:n.1857_1858delinsTG
NM_206965.2:c.1391_1392delinsTG MANE Select	NP_996848.1:p.Ala464Val
NM_001320412.2:c.1391_1392delinsTG	NP_001307341.1:p.Ala464Val
NM_006657.3:c.1391_1392delinsTG	NP_006648.1:p.Ala464Val