Canonical Allele Identifier: CA2275551370

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522030_75522031delinsGC , CM000679.2:g.75522030_75522031delinsGC	GRCh38
NC_000017.10:g.73518111_73518112delinsGC , CM000679.1:g.73518111_73518112delinsGC	GRCh37
NC_000017.9:g.71029706_71029707delinsGC	NCBI36
NG_013041.1:g.10503_10504delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.949_950delinsGC MANE Select	ENSP00000327487.6:p.Ala317=
ENST00000434205.8:c.646_647delinsGC	ENSP00000406559.4:p.Ala216=
ENST00000545228.3:c.949_950delinsGC	ENSP00000438169.3:p.Ala317=
ENST00000579449.2:n.748_749delinsGC
ENST00000580013.6:n.1152_1153delinsGC
ENST00000679370.1:n.1530_1531delinsGC
ENST00000679429.1:c.*407_*408delinsGC	ENSP00000505403.1:n.*407_*408delinsGC
ENST00000679443.1:n.1018_1019delinsGC
ENST00000679782.1:c.949_950delinsGC	ENSP00000505995.1:p.Ala317=
ENST00000679919.1:n.1018_1019delinsGC
ENST00000679928.1:c.*560_*561delinsGC	ENSP00000506071.1:n.*560_*561delinsGC
ENST00000680528.1:n.974_975delinsGC
ENST00000680999.1:c.949_950delinsGC	ENSP00000504984.1:p.Ala317=
ENST00000681282.1:c.*195_*196delinsGC	ENSP00000506339.1:n.*195_*196delinsGC
ENST00000333213.10:c.949_950delinsGC	ENSP00000327487.6:p.Ala317=
ENST00000545228.2:c.38_39delinsGC
ENST00000578415.1:c.909_910delinsGC
ENST00000583173.5:c.482_483delinsGC	ENSP00000463619.1:p.Arg161=
NM_207346.2:c.949_950delinsGC	NP_997229.2:p.Ala317=
XM_005257229.2:c.949_950delinsGC	XP_005257286.1:p.Ala317=
XM_006721821.2:c.646_647delinsGC	XP_006721884.1:p.Ala216=
XM_011524616.1:c.949_950delinsGC	XP_011522918.1:p.Ala317=
XM_011524617.1:c.949_950delinsGC	XP_011522919.1:p.Ala317=
XM_011524618.1:c.949_950delinsGC	XP_011522920.1:p.Ala317=
XR_243646.2:n.979_980delinsGC
XM_005257229.4:c.949_950delinsGC	XP_005257286.1:p.Ala317=
XR_243646.4:n.985_986delinsGC
NM_207346.3:c.949_950delinsGC MANE Select	NP_997229.2:p.Ala317=