Canonical Allele Identifier: CA2639836503

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524590-T-TGCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524592_75524593insAAGGC , CM000679.2:g.75524592_75524593insAAGGC	GRCh38
NC_000017.10:g.73520673_73520674insAAGGC , CM000679.1:g.73520673_73520674insAAGGC	GRCh37
NC_000017.9:g.71032268_71032269insAAGGC	NCBI36
NG_013041.1:g.13065_13066insAAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*180_*181insAAGGC MANE Select	ENSP00000327487.6:n.*180_*181insAAGGC
ENST00000434205.8:c.*180_*181insAAGGC	ENSP00000406559.4:n.*180_*181insAAGGC
ENST00000545228.3:c.*260_*261insAAGGC	ENSP00000438169.3:n.*260_*261insAAGGC
ENST00000577197.2:n.959_960insAAGGC
ENST00000579449.2:n.2501_2502insAAGGC
ENST00000580013.6:n.2905_2906insAAGGC
ENST00000679370.1:n.3283_3284insAAGGC
ENST00000679429.1:c.*1219_*1220insAAGGC	ENSP00000505403.1:n.*1219_*1220insAAGGC
ENST00000679443.1:n.1830_1831insAAGGC
ENST00000679782.1:c.*460_*461insAAGGC	ENSP00000505995.1:n.*460_*461insAAGGC
ENST00000679919.1:n.2032_2033insAAGGC
ENST00000679928.1:c.*2313_*2314insAAGGC	ENSP00000506071.1:n.*2313_*2314insAAGGC
ENST00000680999.1:c.*180_*181insAAGGC	ENSP00000504984.1:n.*180_*181insAAGGC
ENST00000681282.1:c.*1948_*1949insAAGGC	ENSP00000506339.1:n.*1948_*1949insAAGGC
ENST00000333213.10:c.*180_*181insAAGGC	ENSP00000327487.6:n.*180_*181insAAGGC
ENST00000545228.2:c.1038_1039insAAGGC
ENST00000577197.1:n.509_510insAAGGC
NM_207346.2:c.*180_*181insAAGGC	NP_997229.2:n.*180_*181insAAGGC
XM_005257229.2:c.*260_*261insAAGGC	XP_005257286.1:n.*260_*261insAAGGC
XM_006721821.2:c.*260_*261insAAGGC	XP_006721884.1:n.*260_*261insAAGGC
XM_011524616.1:c.*260_*261insAAGGC	XP_011522918.1:n.*260_*261insAAGGC
XM_011524618.1:c.*180_*181insAAGGC	XP_011522920.1:n.*180_*181insAAGGC
XR_243646.2:n.1993_1994insAAGGC
XM_005257229.4:c.*260_*261insAAGGC	XP_005257286.1:n.*260_*261insAAGGC
XR_243646.4:n.1999_2000insAAGGC
NM_207346.3:c.*180_*181insAAGGC MANE Select	NP_997229.2:n.*180_*181insAAGGC