Canonical Allele Identifier: CA638498058

Gene: FTCD

Linked Data

• dbSNP Id: rs1465607363
• gnomAD v2: 21-47558541-CCT-C
• gnomAD v4: 21-46138627-CCT-C
• MyVariant Identifiers: chr21:g.47558542_47558543del (hg19) ; chr21:g.46138628_46138629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138628_46138629del , CM000683.2:g.46138628_46138629del	GRCh38
NC_000021.8:g.47558542_47558543del , CM000683.1:g.47558542_47558543del	GRCh37
NC_000021.7:g.46382970_46382971del	NCBI36
NG_016191.1:g.21939_21940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-143_-142del	ENSP00000507070.1:n.-143_-142del
ENST00000494498.2:c.56_57del	ENSP00000507847.1:p.Gln19ArgfsTer?
ENST00000397746.8:c.1322_1323del MANE Select	ENSP00000380854.3:p.Gln441ArgfsTer?
ENST00000291670.9:c.1322_1323del	ENSP00000291670.5:p.Gln441ArgfsTer?
ENST00000397743.1:c.1278_1279del	ENSP00000380851.1:p.Gly427ArgfsTer3
ENST00000397746.7:c.1322_1323del	ENSP00000380854.3:p.Gln441ArgfsTer?
ENST00000397748.5:c.1322_1323del	ENSP00000380856.1:p.Gln441ArgfsTer?
ENST00000460011.5:n.651_652del
ENST00000488577.1:n.348_349del
ENST00000494498.1:n.623_624del
ENST00000498355.6:n.1391_1392del
NM_006657.2:c.1322_1323del	NP_006648.1:p.Gln441ArgfsTer?
NM_206965.1:c.1322_1323del	NP_996848.1:p.Gln441ArgfsTer?
XM_006723961.2:c.1571_1572del	XP_006724024.2:p.Gln524ArgfsTer?
XM_006723962.2:c.1571_1572del	XP_006724025.2:p.Gln524ArgfsTer?
XM_011529434.1:c.1571_1572del	XP_011527736.1:p.Gln524ArgfsTer?
XM_011529435.1:c.1442_1443del	XP_011527737.1:p.Gln481ArgfsTer?
XM_011529436.1:c.1571_1572del	XP_011527738.1:p.Gln524ArgfsTer?
XM_011529437.1:c.1571_1572del	XP_011527739.1:p.Gln524ArgfsTer?
XM_011529438.1:c.1442_1443del	XP_011527740.1:p.Gln481ArgfsTer?
XM_011529439.1:c.1058_1059del	XP_011527741.1:p.Gln353ArgfsTer?
XR_937433.1:n.1754_1755del
NM_001320412.1:c.1322_1323del	NP_001307341.1:p.Gln441ArgfsTer?
XM_006723961.4:c.1571_1572del	XP_006724024.2:p.Gln524ArgfsTer?
XM_006723962.4:c.1571_1572del	XP_006724025.2:p.Gln524ArgfsTer?
XM_011529434.3:c.1571_1572del	XP_011527736.1:p.Gln524ArgfsTer?
XM_011529435.3:c.1442_1443del	XP_011527737.1:p.Gln481ArgfsTer?
XM_011529436.3:c.1571_1572del	XP_011527738.1:p.Gln524ArgfsTer?
XM_011529437.3:c.1571_1572del	XP_011527739.1:p.Gln524ArgfsTer?
XM_011529439.2:c.1058_1059del	XP_011527741.1:p.Gln353ArgfsTer?
XR_937433.3:n.1788_1789del
NM_206965.2:c.1322_1323del MANE Select	NP_996848.1:p.Gln441ArgfsTer?
NM_001320412.2:c.1322_1323del	NP_001307341.1:p.Gln441ArgfsTer?
NM_006657.3:c.1322_1323del	NP_006648.1:p.Gln441ArgfsTer?