Canonical Allele Identifier: CA627405782

Gene: TSEN54

Linked Data

• dbSNP Id: rs904918193
• gnomAD v2: 17-73512644-G-GGAGCCCGAGCCC
• gnomAD v3: 17-75516563-G-GGAGCCCGAGCCC
• gnomAD v4: 17-75516563-G-GGAGCCCGAGCCC
• MyVariant Identifiers: chr17:g.73512644_73512645insGAGCCCGAGCCC (hg19) ; chr17:g.75516563_75516564insGAGCCCGAGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516571_75516582dup , CM000679.2:g.75516571_75516582dup	GRCh38
NC_000017.10:g.73512652_73512663dup , CM000679.1:g.73512652_73512663dup	GRCh37
NC_000017.9:g.71024247_71024258dup	NCBI36
NG_013041.1:g.5044_5055dup
NG_033152.1:g.4009_4020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.11_22dup MANE Select	ENSP00000327487.6:p.Pro7_Ala8insGluProGluPro
ENST00000434205.8:c.-83+185_-83+196dup	ENSP00000406559.4:n.-83+185_-83+196dup
ENST00000545228.3:c.11_22dup	ENSP00000438169.3:p.Pro7_Ala8insGluProGluPro
ENST00000580013.6:n.20_31dup
ENST00000583818.2:c.11_22dup	ENSP00000461928.2:p.Pro7_Ala8insGluProGluPro
ENST00000679370.1:n.444-175_444-164dup
ENST00000679429.1:c.11_22dup	ENSP00000505403.1:p.Pro7_Ala8insGluProGluPro
ENST00000679782.1:c.11_22dup	ENSP00000505995.1:p.Pro7_Ala8insGluProGluPro
ENST00000679928.1:c.11_22dup	ENSP00000506071.1:p.Pro7_Ala8insGluProGluPro
ENST00000680528.1:n.36_47dup
ENST00000680999.1:c.11_22dup	ENSP00000504984.1:p.Pro7_Ala8insGluProGluPro
ENST00000681282.1:c.11_22dup	ENSP00000506339.1:p.Pro7_Ala8insGluProGluPro
ENST00000333213.10:c.11_22dup	ENSP00000327487.6:p.Pro7_Ala8insGluProGluPro
ENST00000434205.7:c.-83+185_-83+196dup	ENSP00000406559.3:n.-83+185_-83+196dup
ENST00000580013.5:n.36_47dup
ENST00000583173.5:c.11_22dup	ENSP00000463619.1:p.Pro7_Ala8insGluProGluPro
ENST00000583454.1:n.46_57dup
NM_207346.2:c.11_22dup	NP_997229.2:p.Pro7_Ala8insGluProGluPro
XM_005257229.2:c.11_22dup	XP_005257286.1:p.Pro7_Ala8insGluProGluPro
XM_006721821.2:c.-247-175_-247-164dup	XP_006721884.1:n.-247-175_-247-164dup
XM_011524616.1:c.11_22dup	XP_011522918.1:p.Pro7_Ala8insGluProGluPro
XM_011524617.1:c.11_22dup	XP_011522919.1:p.Pro7_Ala8insGluProGluPro
XM_011524618.1:c.11_22dup	XP_011522920.1:p.Pro7_Ala8insGluProGluPro
XR_243646.2:n.41_52dup
XM_005257229.4:c.11_22dup	XP_005257286.1:p.Pro7_Ala8insGluProGluPro
XR_243646.4:n.47_58dup
NM_207346.3:c.11_22dup MANE Select	NP_997229.2:p.Pro7_Ala8insGluProGluPro