Canonical Allele Identifier: CA2639836555

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524611-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524612_75524613del , CM000679.2:g.75524612_75524613del	GRCh38
NC_000017.10:g.73520693_73520694del , CM000679.1:g.73520693_73520694del	GRCh37
NC_000017.9:g.71032288_71032289del	NCBI36
NG_013041.1:g.13085_13086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*200_*201del MANE Select	ENSP00000327487.6:n.*200_*201del
ENST00000434205.8:c.*200_*201del	ENSP00000406559.4:n.*200_*201del
ENST00000545228.3:c.*280_*281del	ENSP00000438169.3:n.*280_*281del
ENST00000577197.2:n.979_980del
ENST00000579449.2:n.2521_2522del
ENST00000580013.6:n.2925_2926del
ENST00000679370.1:n.3303_3304del
ENST00000679429.1:c.*1239_*1240del	ENSP00000505403.1:n.*1239_*1240del
ENST00000679443.1:n.1850_1851del
ENST00000679782.1:c.*480_*481del	ENSP00000505995.1:n.*480_*481del
ENST00000679919.1:n.2052_2053del
ENST00000679928.1:c.*2333_*2334del	ENSP00000506071.1:n.*2333_*2334del
ENST00000680999.1:c.*200_*201del	ENSP00000504984.1:n.*200_*201del
ENST00000681282.1:c.*1968_*1969del	ENSP00000506339.1:n.*1968_*1969del
ENST00000333213.10:c.*200_*201del	ENSP00000327487.6:n.*200_*201del
ENST00000545228.2:c.1058_1059del
ENST00000577197.1:n.529_530del
NM_207346.2:c.*200_*201del	NP_997229.2:n.*200_*201del
XM_005257229.2:c.*280_*281del	XP_005257286.1:n.*280_*281del
XM_006721821.2:c.*280_*281del	XP_006721884.1:n.*280_*281del
XM_011524616.1:c.*280_*281del	XP_011522918.1:n.*280_*281del
XM_011524618.1:c.*200_*201del	XP_011522920.1:n.*200_*201del
XR_243646.2:n.2013_2014del
XM_005257229.4:c.*280_*281del	XP_005257286.1:n.*280_*281del
XR_243646.4:n.2019_2020del
NM_207346.3:c.*200_*201del MANE Select	NP_997229.2:n.*200_*201del