Canonical Allele Identifier: CA2639836236

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524460-G-GTCTGTTCTCAGGGACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524464_75524480dup , CM000679.2:g.75524464_75524480dup	GRCh38
NC_000017.10:g.73520545_73520561dup , CM000679.1:g.73520545_73520561dup	GRCh37
NC_000017.9:g.71032140_71032156dup	NCBI36
NG_013041.1:g.12937_12953dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*52_*68dup MANE Select	ENSP00000327487.6:n.*52_*68dup
ENST00000434205.8:c.*52_*68dup	ENSP00000406559.4:n.*52_*68dup
ENST00000545228.3:c.*132_*148dup	ENSP00000438169.3:n.*132_*148dup
ENST00000577197.2:n.831_847dup
ENST00000579449.2:n.2373_2389dup
ENST00000580013.6:n.2777_2793dup
ENST00000679370.1:n.3155_3171dup
ENST00000679429.1:c.*1091_*1107dup	ENSP00000505403.1:n.*1091_*1107dup
ENST00000679443.1:n.1702_1718dup
ENST00000679782.1:c.*332_*348dup	ENSP00000505995.1:n.*332_*348dup
ENST00000679919.1:n.1904_1920dup
ENST00000679928.1:c.*2185_*2201dup	ENSP00000506071.1:n.*2185_*2201dup
ENST00000680999.1:c.*52_*68dup	ENSP00000504984.1:n.*52_*68dup
ENST00000681282.1:c.*1820_*1836dup	ENSP00000506339.1:n.*1820_*1836dup
ENST00000333213.10:c.*52_*68dup	ENSP00000327487.6:n.*52_*68dup
ENST00000545228.2:c.910_926dup
ENST00000577197.1:n.381_397dup
NM_207346.2:c.*52_*68dup	NP_997229.2:n.*52_*68dup
XM_005257229.2:c.*132_*148dup	XP_005257286.1:n.*132_*148dup
XM_006721821.2:c.*132_*148dup	XP_006721884.1:n.*132_*148dup
XM_011524616.1:c.*132_*148dup	XP_011522918.1:n.*132_*148dup
XM_011524618.1:c.*52_*68dup	XP_011522920.1:n.*52_*68dup
XR_243646.2:n.1865_1881dup
XM_005257229.4:c.*132_*148dup	XP_005257286.1:n.*132_*148dup
XR_243646.4:n.1871_1887dup
NM_207346.3:c.*52_*68dup MANE Select	NP_997229.2:n.*52_*68dup