Canonical Allele Identifier: CA2639836686

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524667-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524668dup , CM000679.2:g.75524668dup	GRCh38
NC_000017.10:g.73520749dup , CM000679.1:g.73520749dup	GRCh37
NC_000017.9:g.71032344dup	NCBI36
NG_013041.1:g.13141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*256dup MANE Select	ENSP00000327487.6:n.*256dup
ENST00000434205.8:c.*256dup	ENSP00000406559.4:n.*256dup
ENST00000545228.3:c.*336dup	ENSP00000438169.3:n.*336dup
ENST00000577197.2:n.1035dup
ENST00000579449.2:n.2577dup
ENST00000580013.6:n.2981dup
ENST00000679370.1:n.3359dup
ENST00000679429.1:c.*1295dup	ENSP00000505403.1:n.*1295dup
ENST00000679443.1:n.1906dup
ENST00000679782.1:c.*536dup	ENSP00000505995.1:n.*536dup
ENST00000679919.1:n.2108dup
ENST00000679928.1:c.*2389dup	ENSP00000506071.1:n.*2389dup
ENST00000680999.1:c.*256dup	ENSP00000504984.1:n.*256dup
ENST00000681282.1:c.*2024dup	ENSP00000506339.1:n.*2024dup
ENST00000333213.10:c.*256dup	ENSP00000327487.6:n.*256dup
ENST00000545228.2:c.1114dup
ENST00000577197.1:n.585dup
NM_207346.2:c.*256dup	NP_997229.2:n.*256dup
XM_005257229.2:c.*336dup	XP_005257286.1:n.*336dup
XM_006721821.2:c.*336dup	XP_006721884.1:n.*336dup
XM_011524616.1:c.*336dup	XP_011522918.1:n.*336dup
XM_011524618.1:c.*256dup	XP_011522920.1:n.*256dup
XR_243646.2:n.2069dup
XM_005257229.4:c.*336dup	XP_005257286.1:n.*336dup
XR_243646.4:n.2075dup
NM_207346.3:c.*256dup MANE Select	NP_997229.2:n.*256dup