Canonical Allele Identifier: CA294075425

Gene: TSEN54

Linked Data

• dbSNP Id: rs984022385
• gnomAD v3: 17-75516566-G-GCCCGAT
• gnomAD v4: 17-75516566-G-GCCCGAT
• MyVariant Identifiers: chr17:g.73512647_73512648insCCCGAT (hg19) ; chr17:g.75516566_75516567insCCCGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516571_75516572insTCCCGA , CM000679.2:g.75516571_75516572insTCCCGA	GRCh38
NC_000017.10:g.73512652_73512653insTCCCGA , CM000679.1:g.73512652_73512653insTCCCGA	GRCh37
NC_000017.9:g.71024247_71024248insTCCCGA	NCBI36
NG_013041.1:g.5044_5045insTCCCGA
NG_033152.1:g.4017_4018insATCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.11_12insTCCCGA MANE Select	ENSP00000327487.6:p.Pro3_Glu4insAspPro
ENST00000434205.8:c.-83+185_-83+186insTCCCGA	ENSP00000406559.4:n.-83+185_-83+186insTCCCGA
ENST00000545228.3:c.11_12insTCCCGA	ENSP00000438169.3:p.Pro3_Glu4insAspPro
ENST00000580013.6:n.20_21insTCCCGA
ENST00000583818.2:c.11_12insTCCCGA	ENSP00000461928.2:p.Pro3_Glu4insAspPro
ENST00000679370.1:n.444-175_444-174insTCCCGA
ENST00000679429.1:c.11_12insTCCCGA	ENSP00000505403.1:p.Pro3_Glu4insAspPro
ENST00000679782.1:c.11_12insTCCCGA	ENSP00000505995.1:p.Pro3_Glu4insAspPro
ENST00000679928.1:c.11_12insTCCCGA	ENSP00000506071.1:p.Pro3_Glu4insAspPro
ENST00000680528.1:n.36_37insTCCCGA
ENST00000680999.1:c.11_12insTCCCGA	ENSP00000504984.1:p.Pro3_Glu4insAspPro
ENST00000681282.1:c.11_12insTCCCGA	ENSP00000506339.1:p.Pro3_Glu4insAspPro
ENST00000333213.10:c.11_12insTCCCGA	ENSP00000327487.6:p.Pro3_Glu4insAspPro
ENST00000434205.7:c.-83+185_-83+186insTCCCGA	ENSP00000406559.3:n.-83+185_-83+186insTCCCGA
ENST00000580013.5:n.36_37insTCCCGA
ENST00000583173.5:c.11_12insTCCCGA	ENSP00000463619.1:p.Pro3_Glu4insAspPro
ENST00000583454.1:n.46_47insTCCCGA
NM_207346.2:c.11_12insTCCCGA	NP_997229.2:p.Pro3_Glu4insAspPro
XM_005257229.2:c.11_12insTCCCGA	XP_005257286.1:p.Pro3_Glu4insAspPro
XM_006721821.2:c.-247-175_-247-174insTCCCGA	XP_006721884.1:n.-247-175_-247-174insTCCCGA
XM_011524616.1:c.11_12insTCCCGA	XP_011522918.1:p.Pro3_Glu4insAspPro
XM_011524617.1:c.11_12insTCCCGA	XP_011522919.1:p.Pro3_Glu4insAspPro
XM_011524618.1:c.11_12insTCCCGA	XP_011522920.1:p.Pro3_Glu4insAspPro
XR_243646.2:n.41_42insTCCCGA
XM_005257229.4:c.11_12insTCCCGA	XP_005257286.1:p.Pro3_Glu4insAspPro
XR_243646.4:n.47_48insTCCCGA
NM_207346.3:c.11_12insTCCCGA MANE Select	NP_997229.2:p.Pro3_Glu4insAspPro