Canonical Allele Identifier: CA2639836331

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524514-G-GCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524515_75524518dup , CM000679.2:g.75524515_75524518dup	GRCh38
NC_000017.10:g.73520596_73520599dup , CM000679.1:g.73520596_73520599dup	GRCh37
NC_000017.9:g.71032191_71032194dup	NCBI36
NG_013041.1:g.12988_12991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*103_*106dup MANE Select	ENSP00000327487.6:n.*103_*106dup
ENST00000434205.8:c.*103_*106dup	ENSP00000406559.4:n.*103_*106dup
ENST00000545228.3:c.*183_*186dup	ENSP00000438169.3:n.*183_*186dup
ENST00000577197.2:n.882_885dup
ENST00000579449.2:n.2424_2427dup
ENST00000580013.6:n.2828_2831dup
ENST00000679370.1:n.3206_3209dup
ENST00000679429.1:c.*1142_*1145dup	ENSP00000505403.1:n.*1142_*1145dup
ENST00000679443.1:n.1753_1756dup
ENST00000679782.1:c.*383_*386dup	ENSP00000505995.1:n.*383_*386dup
ENST00000679919.1:n.1955_1958dup
ENST00000679928.1:c.*2236_*2239dup	ENSP00000506071.1:n.*2236_*2239dup
ENST00000680999.1:c.*103_*106dup	ENSP00000504984.1:n.*103_*106dup
ENST00000681282.1:c.*1871_*1874dup	ENSP00000506339.1:n.*1871_*1874dup
ENST00000333213.10:c.*103_*106dup	ENSP00000327487.6:n.*103_*106dup
ENST00000545228.2:c.961_964dup
ENST00000577197.1:n.432_435dup
NM_207346.2:c.*103_*106dup	NP_997229.2:n.*103_*106dup
XM_005257229.2:c.*183_*186dup	XP_005257286.1:n.*183_*186dup
XM_006721821.2:c.*183_*186dup	XP_006721884.1:n.*183_*186dup
XM_011524616.1:c.*183_*186dup	XP_011522918.1:n.*183_*186dup
XM_011524618.1:c.*103_*106dup	XP_011522920.1:n.*103_*106dup
XR_243646.2:n.1916_1919dup
XM_005257229.4:c.*183_*186dup	XP_005257286.1:n.*183_*186dup
XR_243646.4:n.1922_1925dup
NM_207346.3:c.*103_*106dup MANE Select	NP_997229.2:n.*103_*106dup