Canonical Allele Identifier: CA638498057

Gene: FTCD

Linked Data

• dbSNP Id: rs1323680253
• gnomAD v2: 21-47558519-G-GA
• gnomAD v4: 21-46138605-G-GA
• MyVariant Identifiers: chr21:g.47558519_47558520insA (hg19) ; chr21:g.46138605_46138606insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138606dup , CM000683.2:g.46138606dup	GRCh38
NC_000021.8:g.47558520dup , CM000683.1:g.47558520dup	GRCh37
NC_000021.7:g.46382948dup	NCBI36
NG_016191.1:g.21962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-120dup	ENSP00000507070.1:n.-120dup
ENST00000494498.2:c.79dup	ENSP00000507847.1:p.Ser27PhefsTer?
ENST00000397746.8:c.1345dup MANE Select	ENSP00000380854.3:p.Ser449PhefsTer?
ENST00000291670.9:c.1345dup	ENSP00000291670.5:p.Ser449PhefsTer?
ENST00000397743.1:c.1301dup	ENSP00000380851.1:p.Cys435LeufsTer4
ENST00000397746.7:c.1345dup	ENSP00000380854.3:p.Ser449PhefsTer?
ENST00000397748.5:c.1345dup	ENSP00000380856.1:p.Ser449PhefsTer?
ENST00000460011.5:n.674dup
ENST00000488577.1:n.371dup
ENST00000494498.1:n.646dup
ENST00000498355.6:n.1414dup
NM_006657.2:c.1345dup	NP_006648.1:p.Ser449PhefsTer?
NM_206965.1:c.1345dup	NP_996848.1:p.Ser449PhefsTer?
XM_006723961.2:c.1594dup	XP_006724024.2:p.Ser532PhefsTer?
XM_006723962.2:c.1594dup	XP_006724025.2:p.Ser532PhefsTer?
XM_011529434.1:c.1594dup	XP_011527736.1:p.Ser532PhefsTer?
XM_011529435.1:c.1465dup	XP_011527737.1:p.Ser489PhefsTer?
XM_011529436.1:c.1594dup	XP_011527738.1:p.Ser532PhefsTer?
XM_011529437.1:c.1594dup	XP_011527739.1:p.Ser532PhefsTer?
XM_011529438.1:c.1465dup	XP_011527740.1:p.Ser489PhefsTer?
XM_011529439.1:c.1081dup	XP_011527741.1:p.Ser361PhefsTer?
XR_937433.1:n.1777dup
NM_001320412.1:c.1345dup	NP_001307341.1:p.Ser449PhefsTer?
XM_006723961.4:c.1594dup	XP_006724024.2:p.Ser532PhefsTer?
XM_006723962.4:c.1594dup	XP_006724025.2:p.Ser532PhefsTer?
XM_011529434.3:c.1594dup	XP_011527736.1:p.Ser532PhefsTer?
XM_011529435.3:c.1465dup	XP_011527737.1:p.Ser489PhefsTer?
XM_011529436.3:c.1594dup	XP_011527738.1:p.Ser532PhefsTer?
XM_011529437.3:c.1594dup	XP_011527739.1:p.Ser532PhefsTer?
XM_011529439.2:c.1081dup	XP_011527741.1:p.Ser361PhefsTer?
XR_937433.3:n.1811dup
NM_206965.2:c.1345dup MANE Select	NP_996848.1:p.Ser449PhefsTer?
NM_001320412.2:c.1345dup	NP_001307341.1:p.Ser449PhefsTer?
NM_006657.3:c.1345dup	NP_006648.1:p.Ser449PhefsTer?