Canonical Allele Identifier: CA2639836386

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524541-C-CCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524542_75524543insAGAC , CM000679.2:g.75524542_75524543insAGAC	GRCh38
NC_000017.10:g.73520623_73520624insAGAC , CM000679.1:g.73520623_73520624insAGAC	GRCh37
NC_000017.9:g.71032218_71032219insAGAC	NCBI36
NG_013041.1:g.13015_13016insAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*130_*131insAGAC MANE Select	ENSP00000327487.6:n.*130_*131insAGAC
ENST00000434205.8:c.*130_*131insAGAC	ENSP00000406559.4:n.*130_*131insAGAC
ENST00000545228.3:c.*210_*211insAGAC	ENSP00000438169.3:n.*210_*211insAGAC
ENST00000577197.2:n.909_910insAGAC
ENST00000579449.2:n.2451_2452insAGAC
ENST00000580013.6:n.2855_2856insAGAC
ENST00000679370.1:n.3233_3234insAGAC
ENST00000679429.1:c.*1169_*1170insAGAC	ENSP00000505403.1:n.*1169_*1170insAGAC
ENST00000679443.1:n.1780_1781insAGAC
ENST00000679782.1:c.*410_*411insAGAC	ENSP00000505995.1:n.*410_*411insAGAC
ENST00000679919.1:n.1982_1983insAGAC
ENST00000679928.1:c.*2263_*2264insAGAC	ENSP00000506071.1:n.*2263_*2264insAGAC
ENST00000680999.1:c.*130_*131insAGAC	ENSP00000504984.1:n.*130_*131insAGAC
ENST00000681282.1:c.*1898_*1899insAGAC	ENSP00000506339.1:n.*1898_*1899insAGAC
ENST00000333213.10:c.*130_*131insAGAC	ENSP00000327487.6:n.*130_*131insAGAC
ENST00000545228.2:c.988_989insAGAC
ENST00000577197.1:n.459_460insAGAC
NM_207346.2:c.*130_*131insAGAC	NP_997229.2:n.*130_*131insAGAC
XM_005257229.2:c.*210_*211insAGAC	XP_005257286.1:n.*210_*211insAGAC
XM_006721821.2:c.*210_*211insAGAC	XP_006721884.1:n.*210_*211insAGAC
XM_011524616.1:c.*210_*211insAGAC	XP_011522918.1:n.*210_*211insAGAC
XM_011524618.1:c.*130_*131insAGAC	XP_011522920.1:n.*130_*131insAGAC
XR_243646.2:n.1943_1944insAGAC
XM_005257229.4:c.*210_*211insAGAC	XP_005257286.1:n.*210_*211insAGAC
XR_243646.4:n.1949_1950insAGAC
NM_207346.3:c.*130_*131insAGAC MANE Select	NP_997229.2:n.*130_*131insAGAC