Canonical Allele Identifier: CA775078756

Gene: TSEN54

Linked Data

• dbSNP Id: rs1460625063
• gnomAD v3: 17-75524664-CTG-C
• gnomAD v4: 17-75524664-CTG-C
• MyVariant Identifiers: chr17:g.73520746_73520747del (hg19) ; chr17:g.75524665_75524666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524669_75524670del , CM000679.2:g.75524669_75524670del	GRCh38
NC_000017.10:g.73520750_73520751del , CM000679.1:g.73520750_73520751del	GRCh37
NC_000017.9:g.71032345_71032346del	NCBI36
NG_013041.1:g.13142_13143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*257_*258del MANE Select	ENSP00000327487.6:n.*257_*258del
ENST00000434205.8:c.*257_*258del	ENSP00000406559.4:n.*257_*258del
ENST00000545228.3:c.*337_*338del	ENSP00000438169.3:n.*337_*338del
ENST00000577197.2:n.1036_1037del
ENST00000579449.2:n.2578_2579del
ENST00000580013.6:n.2982_2983del
ENST00000679370.1:n.3360_3361del
ENST00000679429.1:c.*1296_*1297del	ENSP00000505403.1:n.*1296_*1297del
ENST00000679443.1:n.1907_1908del
ENST00000679782.1:c.*537_*538del	ENSP00000505995.1:n.*537_*538del
ENST00000679919.1:n.2109_2110del
ENST00000679928.1:c.*2390_*2391del	ENSP00000506071.1:n.*2390_*2391del
ENST00000680999.1:c.*257_*258del	ENSP00000504984.1:n.*257_*258del
ENST00000681282.1:c.*2025_*2026del	ENSP00000506339.1:n.*2025_*2026del
ENST00000333213.10:c.*257_*258del	ENSP00000327487.6:n.*257_*258del
ENST00000545228.2:c.1115_1116del
ENST00000577197.1:n.586_587del
NM_207346.2:c.*257_*258del	NP_997229.2:n.*257_*258del
XM_005257229.2:c.*337_*338del	XP_005257286.1:n.*337_*338del
XM_006721821.2:c.*337_*338del	XP_006721884.1:n.*337_*338del
XM_011524616.1:c.*337_*338del	XP_011522918.1:n.*337_*338del
XM_011524618.1:c.*257_*258del	XP_011522920.1:n.*257_*258del
XR_243646.2:n.2070_2071del
XM_005257229.4:c.*337_*338del	XP_005257286.1:n.*337_*338del
XR_243646.4:n.2076_2077del
NM_207346.3:c.*257_*258del MANE Select	NP_997229.2:n.*257_*258del