Canonical Allele Identifier: CA2639836613

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524637-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524640del , CM000679.2:g.75524640del	GRCh38
NC_000017.10:g.73520721del , CM000679.1:g.73520721del	GRCh37
NC_000017.9:g.71032316del	NCBI36
NG_013041.1:g.13113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*228del MANE Select	ENSP00000327487.6:n.*228del
ENST00000434205.8:c.*228del	ENSP00000406559.4:n.*228del
ENST00000545228.3:c.*308del	ENSP00000438169.3:n.*308del
ENST00000577197.2:n.1007del
ENST00000579449.2:n.2549del
ENST00000580013.6:n.2953del
ENST00000679370.1:n.3331del
ENST00000679429.1:c.*1267del	ENSP00000505403.1:n.*1267del
ENST00000679443.1:n.1878del
ENST00000679782.1:c.*508del	ENSP00000505995.1:n.*508del
ENST00000679919.1:n.2080del
ENST00000679928.1:c.*2361del	ENSP00000506071.1:n.*2361del
ENST00000680999.1:c.*228del	ENSP00000504984.1:n.*228del
ENST00000681282.1:c.*1996del	ENSP00000506339.1:n.*1996del
ENST00000333213.10:c.*228del	ENSP00000327487.6:n.*228del
ENST00000545228.2:c.1086del
ENST00000577197.1:n.557del
NM_207346.2:c.*228del	NP_997229.2:n.*228del
XM_005257229.2:c.*308del	XP_005257286.1:n.*308del
XM_006721821.2:c.*308del	XP_006721884.1:n.*308del
XM_011524616.1:c.*308del	XP_011522918.1:n.*308del
XM_011524618.1:c.*228del	XP_011522920.1:n.*228del
XR_243646.2:n.2041del
XM_005257229.4:c.*308del	XP_005257286.1:n.*308del
XR_243646.4:n.2047del
NM_207346.3:c.*228del MANE Select	NP_997229.2:n.*228del