Canonical Allele Identifier: CA294075400

Gene: TSEN54

Linked Data

• dbSNP Id: rs904918193
• gnomAD v3: 17-75516563-GGAGCCC-G
• gnomAD v4: 17-75516563-GGAGCCC-G
• MyVariant Identifiers: chr17:g.73512645_73512650del (hg19) ; chr17:g.75516564_75516569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516577_75516582del , CM000679.2:g.75516577_75516582del	GRCh38
NC_000017.10:g.73512658_73512663del , CM000679.1:g.73512658_73512663del	GRCh37
NC_000017.9:g.71024253_71024258del	NCBI36
NG_013041.1:g.5050_5055del
NG_033152.1:g.4015_4020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.17_22del MANE Select	ENSP00000327487.6:p.Glu6_Pro7del
ENST00000434205.8:c.-83+191_-83+196del	ENSP00000406559.4:n.-83+191_-83+196del
ENST00000545228.3:c.17_22del	ENSP00000438169.3:p.Glu6_Pro7del
ENST00000580013.6:n.26_31del
ENST00000583818.2:c.17_22del	ENSP00000461928.2:p.Glu6_Pro7del
ENST00000679370.1:n.444-169_444-164del
ENST00000679429.1:c.17_22del	ENSP00000505403.1:p.Glu6_Pro7del
ENST00000679782.1:c.17_22del	ENSP00000505995.1:p.Glu6_Pro7del
ENST00000679928.1:c.17_22del	ENSP00000506071.1:p.Glu6_Pro7del
ENST00000680528.1:n.42_47del
ENST00000680999.1:c.17_22del	ENSP00000504984.1:p.Glu6_Pro7del
ENST00000681282.1:c.17_22del	ENSP00000506339.1:p.Glu6_Pro7del
ENST00000333213.10:c.17_22del	ENSP00000327487.6:p.Glu6_Pro7del
ENST00000434205.7:c.-83+191_-83+196del	ENSP00000406559.3:n.-83+191_-83+196del
ENST00000580013.5:n.42_47del
ENST00000583173.5:c.17_22del	ENSP00000463619.1:p.Glu6_Pro7del
ENST00000583454.1:n.52_57del
NM_207346.2:c.17_22del	NP_997229.2:p.Glu6_Pro7del
XM_005257229.2:c.17_22del	XP_005257286.1:p.Glu6_Pro7del
XM_006721821.2:c.-247-169_-247-164del	XP_006721884.1:n.-247-169_-247-164del
XM_011524616.1:c.17_22del	XP_011522918.1:p.Glu6_Pro7del
XM_011524617.1:c.17_22del	XP_011522919.1:p.Glu6_Pro7del
XM_011524618.1:c.17_22del	XP_011522920.1:p.Glu6_Pro7del
XR_243646.2:n.47_52del
XM_005257229.4:c.17_22del	XP_005257286.1:p.Glu6_Pro7del
XR_243646.4:n.53_58del
NM_207346.3:c.17_22del MANE Select	NP_997229.2:p.Glu6_Pro7del