Canonical Allele Identifier: CA10605411

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 286243
• ClinVar RCV Id: RCV000378466
• dbSNP Id: rs1555643564
• MyVariant Identifiers: chr17:g.73512649_73512650insGGATCC (hg19) ; chr17:g.75516568_75516569insGGATCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516568_75516569insGGATCC , CM000679.2:g.75516568_75516569insGGATCC	GRCh38
NC_000017.10:g.73512649_73512650insGGATCC , CM000679.1:g.73512649_73512650insGGATCC	GRCh37
NC_000017.9:g.71024244_71024245insGGATCC	NCBI36
NG_013041.1:g.5041_5042insGGATCC
NG_033152.1:g.4017_4018insATCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.8_9insGGATCC MANE Select	ENSP00000327487.6:p.Pro3_Glu4insAspPro
ENST00000434205.8:c.-83+182_-83+183insGGATCC	ENSP00000406559.4:n.-83+182_-83+183insGGATCC
ENST00000545228.3:c.8_9insGGATCC	ENSP00000438169.3:p.Pro3_Glu4insAspPro
ENST00000580013.6:n.17_18insGGATCC
ENST00000583818.2:c.8_9insGGATCC	ENSP00000461928.2:p.Pro3_Glu4insAspPro
ENST00000679370.1:n.444-178_444-177insGGATCC
ENST00000679429.1:c.8_9insGGATCC	ENSP00000505403.1:p.Pro3_Glu4insAspPro
ENST00000679782.1:c.8_9insGGATCC	ENSP00000505995.1:p.Pro3_Glu4insAspPro
ENST00000679928.1:c.8_9insGGATCC	ENSP00000506071.1:p.Pro3_Glu4insAspPro
ENST00000680528.1:n.33_34insGGATCC
ENST00000680999.1:c.8_9insGGATCC	ENSP00000504984.1:p.Pro3_Glu4insAspPro
ENST00000681282.1:c.8_9insGGATCC	ENSP00000506339.1:p.Pro3_Glu4insAspPro
ENST00000333213.10:c.8_9insGGATCC	ENSP00000327487.6:p.Pro3_Glu4insAspPro
ENST00000434205.7:c.-83+182_-83+183insGGATCC	ENSP00000406559.3:n.-83+182_-83+183insGGATCC
ENST00000580013.5:n.33_34insGGATCC
ENST00000583173.5:c.8_9insGGATCC	ENSP00000463619.1:p.Pro3_Glu4insAspPro
ENST00000583454.1:n.43_44insGGATCC
NM_207346.2:c.8_9insGGATCC	NP_997229.2:p.Pro3_Glu4insAspPro
XM_005257229.2:c.8_9insGGATCC	XP_005257286.1:p.Pro3_Glu4insAspPro
XM_006721821.2:c.-247-178_-247-177insGGATCC	XP_006721884.1:n.-247-178_-247-177insGGATCC
XM_011524616.1:c.8_9insGGATCC	XP_011522918.1:p.Pro3_Glu4insAspPro
XM_011524617.1:c.8_9insGGATCC	XP_011522919.1:p.Pro3_Glu4insAspPro
XM_011524618.1:c.8_9insGGATCC	XP_011522920.1:p.Pro3_Glu4insAspPro
XR_243646.2:n.38_39insGGATCC
XM_005257229.4:c.8_9insGGATCC	XP_005257286.1:p.Pro3_Glu4insAspPro
XR_243646.4:n.44_45insGGATCC
NM_207346.3:c.8_9insGGATCC MANE Select	NP_997229.2:p.Pro3_Glu4insAspPro