Canonical Allele Identifier: CA8764266

Gene: TSEN54

Linked Data

• dbSNP Id: rs773347553
• ExAC: 17:73517942 TCTGGGGTCC / T
• gnomAD v2: 17-73517942-TCTGGGGTCC-T
• gnomAD v3: 17-75521861-TCTGGGGTCC-T
• gnomAD v4: 17-75521861-TCTGGGGTCC-T
• MyVariant Identifiers: chr17:g.73517943_73517951del (hg19) ; chr17:g.75521862_75521870del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521867_75521875del , CM000679.2:g.75521867_75521875del	GRCh38
NC_000017.10:g.73517948_73517956del , CM000679.1:g.73517948_73517956del	GRCh37
NC_000017.9:g.71029543_71029551del	NCBI36
NG_013041.1:g.10340_10348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.786_794del MANE Select	ENSP00000327487.6:p.Ser263_Gly265del
ENST00000434205.8:c.483_491del	ENSP00000406559.4:p.Ser162_Gly164del
ENST00000545228.3:c.786_794del	ENSP00000438169.3:p.Ser263_Gly265del
ENST00000579449.2:n.585_593del
ENST00000580013.6:n.989_997del
ENST00000583818.2:c.840_848del	ENSP00000461928.2:n.840_848del
ENST00000679370.1:n.1367_1375del
ENST00000679429.1:c.*244_*252del	ENSP00000505403.1:n.*244_*252del
ENST00000679443.1:n.855_863del
ENST00000679782.1:c.786_794del	ENSP00000505995.1:p.Ser263_Gly265del
ENST00000679919.1:n.855_863del
ENST00000679928.1:c.*397_*405del	ENSP00000506071.1:n.*397_*405del
ENST00000680528.1:n.811_819del
ENST00000680999.1:c.786_794del	ENSP00000504984.1:p.Ser263_Gly265del
ENST00000681282.1:c.*32_*40del	ENSP00000506339.1:n.*32_*40del
ENST00000333213.10:c.786_794del	ENSP00000327487.6:p.Ser263_Gly265del
ENST00000578415.1:c.746_754del
ENST00000583173.5:c.459-140_459-132del	ENSP00000463619.1:n.459-140_459-132del
ENST00000583818.1:c.735_743del	ENSP00000461928.1:n.735_743del
NM_207346.2:c.786_794del	NP_997229.2:p.Ser263_Gly265del
XM_005257229.2:c.786_794del	XP_005257286.1:p.Ser263_Gly265del
XM_006721821.2:c.483_491del	XP_006721884.1:p.Ser162_Gly164del
XM_011524616.1:c.786_794del	XP_011522918.1:p.Ser263_Gly265del
XM_011524617.1:c.786_794del	XP_011522919.1:p.Ser263_Gly265del
XM_011524618.1:c.786_794del	XP_011522920.1:p.Ser263_Gly265del
XR_243646.2:n.816_824del
XM_005257229.4:c.786_794del	XP_005257286.1:p.Ser263_Gly265del
XR_243646.4:n.822_830del
NM_207346.3:c.786_794del MANE Select	NP_997229.2:p.Ser263_Gly265del