Canonical Allele Identifier: CA247849

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 198935
• ClinVar RCV Id: RCV000180396
• dbSNP Id: rs794727939
• ExAC: 17:73517795 TAAG / T
• gnomAD v2: 17-73517795-TAAG-T
• gnomAD v3: 17-75521714-TAAG-T
• gnomAD v4: 17-75521714-TAAG-T
• MyVariant Identifiers: chr17:g.73517799_73517801del (hg19) ; chr17:g.73517796_73517798del (hg19) ; chr17:g.75521718_75521720del (hg38) ; chr17:g.75521715_75521717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521718_75521720del , CM000679.2:g.75521718_75521720del	GRCh38
NC_000017.10:g.73517799_73517801del , CM000679.1:g.73517799_73517801del	GRCh37
NC_000017.9:g.71029394_71029396del	NCBI36
NG_013041.1:g.10191_10193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.637_639del MANE Select	ENSP00000327487.6:p.Lys213del
ENST00000434205.8:c.334_336del	ENSP00000406559.4:p.Lys112del
ENST00000545228.3:c.637_639del	ENSP00000438169.3:p.Lys213del
ENST00000579449.2:n.436_438del
ENST00000580013.6:n.840_842del
ENST00000583818.2:c.691_693del	ENSP00000461928.2:n.691_693del
ENST00000679370.1:n.1218_1220del
ENST00000679429.1:c.*95_*97del	ENSP00000505403.1:n.*95_*97del
ENST00000679443.1:n.706_708del
ENST00000679782.1:c.637_639del	ENSP00000505995.1:p.Lys213del
ENST00000679919.1:n.706_708del
ENST00000679928.1:c.*248_*250del	ENSP00000506071.1:n.*248_*250del
ENST00000680528.1:n.662_664del
ENST00000680999.1:c.637_639del	ENSP00000504984.1:p.Lys213del
ENST00000681282.1:c.666_668del	ENSP00000506339.1:p.Arg223del
ENST00000333213.10:c.637_639del	ENSP00000327487.6:p.Lys213del
ENST00000578415.1:c.597_599del
ENST00000583173.5:c.458+208_458+210del	ENSP00000463619.1:n.458+208_458+210del
ENST00000583818.1:c.586_588del	ENSP00000461928.1:n.586_588del
NM_207346.2:c.637_639del	NP_997229.2:p.Lys213del
XM_005257229.2:c.637_639del	XP_005257286.1:p.Lys213del
XM_006721821.2:c.334_336del	XP_006721884.1:p.Lys112del
XM_011524616.1:c.637_639del	XP_011522918.1:p.Lys213del
XM_011524617.1:c.637_639del	XP_011522919.1:p.Lys213del
XM_011524618.1:c.637_639del	XP_011522920.1:p.Lys213del
XR_243646.2:n.667_669del
XM_005257229.4:c.637_639del	XP_005257286.1:p.Lys213del
XR_243646.4:n.673_675del
NM_207346.3:c.637_639del MANE Select	NP_997229.2:p.Lys213del