Canonical Allele Identifier: CA2275551266

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521868_75521878delinsTCCCTGGGCCC , CM000679.2:g.75521868_75521878delinsTCCCTGGGCCC	GRCh38
NC_000017.10:g.73517949_73517959delinsTCCCTGGGCCC , CM000679.1:g.73517949_73517959delinsTCCCTGGGCCC	GRCh37
NC_000017.9:g.71029544_71029554delinsTCCCTGGGCCC	NCBI36
NG_013041.1:g.10341_10351delinsTCCCTGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.787_797delinsTCCCTGGGCCC MANE Select	ENSP00000327487.6:p.Ser263=
ENST00000434205.8:c.484_494delinsTCCCTGGGCCC	ENSP00000406559.4:p.Ser162=
ENST00000545228.3:c.787_797delinsTCCCTGGGCCC	ENSP00000438169.3:p.Ser263=
ENST00000579449.2:n.586_596delinsTCCCTGGGCCC
ENST00000580013.6:n.990_1000delinsTCCCTGGGCCC
ENST00000583818.2:c.841_851delinsTCCCTGGGCCC	ENSP00000461928.2:n.841_851delinsTCCCTGGGCCC
ENST00000679370.1:n.1368_1378delinsTCCCTGGGCCC
ENST00000679429.1:c.*245_*255delinsTCCCTGGGCCC	ENSP00000505403.1:n.*245_*255delinsTCCCTGGGCCC
ENST00000679443.1:n.856_866delinsTCCCTGGGCCC
ENST00000679782.1:c.787_797delinsTCCCTGGGCCC	ENSP00000505995.1:p.Ser263=
ENST00000679919.1:n.856_866delinsTCCCTGGGCCC
ENST00000679928.1:c.*398_*408delinsTCCCTGGGCCC	ENSP00000506071.1:n.*398_*408delinsTCCCTGGGCCC
ENST00000680528.1:n.812_822delinsTCCCTGGGCCC
ENST00000680999.1:c.787_797delinsTCCCTGGGCCC	ENSP00000504984.1:p.Ser263=
ENST00000681282.1:c.*33_*43delinsTCCCTGGGCCC	ENSP00000506339.1:n.*33_*43delinsTCCCTGGGCCC
ENST00000333213.10:c.787_797delinsTCCCTGGGCCC	ENSP00000327487.6:p.Ser263=
ENST00000578415.1:c.747_757delinsTCCCTGGGCCC
ENST00000583173.5:c.459-139_459-129delinsTCCCTGGGCCC	ENSP00000463619.1:n.459-139_459-129delinsTCCCTGGGCCC
ENST00000583818.1:c.736_746delinsTCCCTGGGCCC	ENSP00000461928.1:n.736_746delinsTCCCTGGGCCC
NM_207346.2:c.787_797delinsTCCCTGGGCCC	NP_997229.2:p.Ser263=
XM_005257229.2:c.787_797delinsTCCCTGGGCCC	XP_005257286.1:p.Ser263=
XM_006721821.2:c.484_494delinsTCCCTGGGCCC	XP_006721884.1:p.Ser162=
XM_011524616.1:c.787_797delinsTCCCTGGGCCC	XP_011522918.1:p.Ser263=
XM_011524617.1:c.787_797delinsTCCCTGGGCCC	XP_011522919.1:p.Ser263=
XM_011524618.1:c.787_797delinsTCCCTGGGCCC	XP_011522920.1:p.Ser263=
XR_243646.2:n.817_827delinsTCCCTGGGCCC
XM_005257229.4:c.787_797delinsTCCCTGGGCCC	XP_005257286.1:p.Ser263=
XR_243646.4:n.823_833delinsTCCCTGGGCCC
NM_207346.3:c.787_797delinsTCCCTGGGCCC MANE Select	NP_997229.2:p.Ser263=