Canonical Allele Identifier: CA627406203

Gene: TSEN54

Linked Data

• dbSNP Id: rs1568002960
• gnomAD v2: 17-73517446-TGAG-T
• gnomAD v4: 17-75521365-TGAG-T
• MyVariant Identifiers: chr17:g.73517447_73517449del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521370_75521372del , CM000679.2:g.75521370_75521372del	GRCh38
NC_000017.10:g.73517451_73517453del , CM000679.1:g.73517451_73517453del	GRCh37
NC_000017.9:g.71029046_71029048del	NCBI36
NG_013041.1:g.9843_9845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.522-39_522-37del MANE Select	ENSP00000327487.6:n.522-39_522-37del
ENST00000434205.8:c.219-39_219-37del	ENSP00000406559.4:n.219-39_219-37del
ENST00000545228.3:c.522-39_522-37del	ENSP00000438169.3:n.522-39_522-37del
ENST00000579449.2:n.321-39_321-37del
ENST00000580013.6:n.531-39_531-37del
ENST00000583818.2:c.537_539del	ENSP00000461928.2:n.537_539del
ENST00000679370.1:n.909-39_909-37del
ENST00000679429.1:c.514-39_514-37del	ENSP00000505403.1:n.514-39_514-37del
ENST00000679443.1:n.397-39_397-37del
ENST00000679782.1:c.522-39_522-37del	ENSP00000505995.1:n.522-39_522-37del
ENST00000679919.1:n.397-39_397-37del
ENST00000679928.1:c.*133-39_*133-37del	ENSP00000506071.1:n.*133-39_*133-37del
ENST00000680528.1:n.547-39_547-37del
ENST00000680999.1:c.522-39_522-37del	ENSP00000504984.1:n.522-39_522-37del
ENST00000681282.1:c.522-39_522-37del	ENSP00000506339.1:n.522-39_522-37del
ENST00000333213.10:c.522-39_522-37del	ENSP00000327487.6:n.522-39_522-37del
ENST00000578415.1:c.482-39_482-37del
ENST00000580013.5:n.539-39_539-37del
ENST00000583173.5:c.357-39_357-37del	ENSP00000463619.1:n.357-39_357-37del
ENST00000583818.1:c.432_434del	ENSP00000461928.1:n.432_434del
NM_207346.2:c.522-39_522-37del	NP_997229.2:n.522-39_522-37del
XM_005257229.2:c.522-39_522-37del	XP_005257286.1:n.522-39_522-37del
XM_006721821.2:c.219-39_219-37del	XP_006721884.1:n.219-39_219-37del
XM_011524616.1:c.522-39_522-37del	XP_011522918.1:n.522-39_522-37del
XM_011524617.1:c.522-39_522-37del	XP_011522919.1:n.522-39_522-37del
XM_011524618.1:c.522-39_522-37del	XP_011522920.1:n.522-39_522-37del
XR_243646.2:n.552-39_552-37del
XM_005257229.4:c.522-39_522-37del	XP_005257286.1:n.522-39_522-37del
XR_243646.4:n.558-39_558-37del
NM_207346.3:c.522-39_522-37del MANE Select	NP_997229.2:n.522-39_522-37del