Canonical Allele Identifier: CA2639835730

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516580-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516583_75516584del , CM000679.2:g.75516583_75516584del	GRCh38
NC_000017.10:g.73512664_73512665del , CM000679.1:g.73512664_73512665del	GRCh37
NC_000017.9:g.71024259_71024260del	NCBI36
NG_013041.1:g.5056_5057del
NG_033152.1:g.4002_4003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.23_24del MANE Select	ENSP00000327487.6:p.Ala8GlyfsTer?
ENST00000434205.8:c.-83+197_-83+198del	ENSP00000406559.4:n.-83+197_-83+198del
ENST00000545228.3:c.23_24del	ENSP00000438169.3:p.Ala8GlyfsTer?
ENST00000580013.6:n.32_33del
ENST00000583818.2:c.23_24del	ENSP00000461928.2:p.Ala8GlyfsTer?
ENST00000679370.1:n.444-163_444-162del
ENST00000679429.1:c.23_24del	ENSP00000505403.1:p.Ala8GlyfsTer?
ENST00000679782.1:c.23_24del	ENSP00000505995.1:p.Ala8GlyfsTer?
ENST00000679928.1:c.23_24del	ENSP00000506071.1:p.Ala8GlyfsTer?
ENST00000680528.1:n.48_49del
ENST00000680999.1:c.23_24del	ENSP00000504984.1:p.Ala8GlyfsTer?
ENST00000681282.1:c.23_24del	ENSP00000506339.1:p.Ala8GlyfsTer?
ENST00000333213.10:c.23_24del	ENSP00000327487.6:p.Ala8GlyfsTer?
ENST00000434205.7:c.-83+197_-83+198del	ENSP00000406559.3:n.-83+197_-83+198del
ENST00000580013.5:n.48_49del
ENST00000583173.5:c.23_24del	ENSP00000463619.1:p.Ala8GlyfsTer?
ENST00000583454.1:n.58_59del
NM_207346.2:c.23_24del	NP_997229.2:p.Ala8GlyfsTer?
XM_005257229.2:c.23_24del	XP_005257286.1:p.Ala8GlyfsTer?
XM_006721821.2:c.-247-163_-247-162del	XP_006721884.1:n.-247-163_-247-162del
XM_011524616.1:c.23_24del	XP_011522918.1:p.Ala8GlyfsTer?
XM_011524617.1:c.23_24del	XP_011522919.1:p.Ala8GlyfsTer?
XM_011524618.1:c.23_24del	XP_011522920.1:p.Ala8GlyfsTer?
XR_243646.2:n.53_54del
XM_005257229.4:c.23_24del	XP_005257286.1:p.Ala8GlyfsTer?
XR_243646.4:n.59_60del
NM_207346.3:c.23_24del MANE Select	NP_997229.2:p.Ala8GlyfsTer?