Canonical Allele Identifier: CA749855799

Gene: FTCD

Linked Data

• dbSNP Id: rs1283342410
• gnomAD v3: 21-46138600-GCA-G
• gnomAD v4: 21-46138600-GCA-G
• MyVariant Identifiers: chr21:g.47558515_47558516del (hg19) ; chr21:g.46138601_46138602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46138603_46138604del , CM000683.2:g.46138603_46138604del	GRCh38
NC_000021.8:g.47558517_47558518del , CM000683.1:g.47558517_47558518del	GRCh37
NC_000021.7:g.46382945_46382946del	NCBI36
NG_016191.1:g.21966_21967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460011.6:c.-116_-115del	ENSP00000507070.1:n.-116_-115del
ENST00000494498.2:c.83_84del	ENSP00000507847.1:p.Val28AlafsTer?
ENST00000397746.8:c.1349_1350del MANE Select	ENSP00000380854.3:p.Val450AlafsTer?
ENST00000291670.9:c.1349_1350del	ENSP00000291670.5:p.Val450AlafsTer?
ENST00000397743.1:c.1305_1306del	ENSP00000380851.1:p.Ala436ArgfsTer2
ENST00000397746.7:c.1349_1350del	ENSP00000380854.3:p.Val450AlafsTer?
ENST00000397748.5:c.1349_1350del	ENSP00000380856.1:p.Val450AlafsTer?
ENST00000460011.5:n.678_679del
ENST00000488577.1:n.375_376del
ENST00000494498.1:n.650_651del
ENST00000498355.6:n.1418_1419del
NM_006657.2:c.1349_1350del	NP_006648.1:p.Val450AlafsTer?
NM_206965.1:c.1349_1350del	NP_996848.1:p.Val450AlafsTer?
XM_006723961.2:c.1598_1599del	XP_006724024.2:p.Val533AlafsTer?
XM_006723962.2:c.1598_1599del	XP_006724025.2:p.Val533AlafsTer?
XM_011529434.1:c.1598_1599del	XP_011527736.1:p.Val533AlafsTer?
XM_011529435.1:c.1469_1470del	XP_011527737.1:p.Val490AlafsTer?
XM_011529436.1:c.1598_1599del	XP_011527738.1:p.Val533AlafsTer?
XM_011529437.1:c.1598_1599del	XP_011527739.1:p.Val533AlafsTer?
XM_011529438.1:c.1469_1470del	XP_011527740.1:p.Val490AlafsTer?
XM_011529439.1:c.1085_1086del	XP_011527741.1:p.Val362AlafsTer?
XR_937433.1:n.1781_1782del
NM_001320412.1:c.1349_1350del	NP_001307341.1:p.Val450AlafsTer?
XM_006723961.4:c.1598_1599del	XP_006724024.2:p.Val533AlafsTer?
XM_006723962.4:c.1598_1599del	XP_006724025.2:p.Val533AlafsTer?
XM_011529434.3:c.1598_1599del	XP_011527736.1:p.Val533AlafsTer?
XM_011529435.3:c.1469_1470del	XP_011527737.1:p.Val490AlafsTer?
XM_011529436.3:c.1598_1599del	XP_011527738.1:p.Val533AlafsTer?
XM_011529437.3:c.1598_1599del	XP_011527739.1:p.Val533AlafsTer?
XM_011529439.2:c.1085_1086del	XP_011527741.1:p.Val362AlafsTer?
XR_937433.3:n.1815_1816del
NM_206965.2:c.1349_1350del MANE Select	NP_996848.1:p.Val450AlafsTer?
NM_001320412.2:c.1349_1350del	NP_001307341.1:p.Val450AlafsTer?
NM_006657.3:c.1349_1350del	NP_006648.1:p.Val450AlafsTer?