Canonical Allele Identifier: CA627594364

Gene: TSEN54

Linked Data

• dbSNP Id: rs1288881793
• gnomAD v2: 17-73518088-ACAG-A
• gnomAD v3: 17-75522007-ACAG-A
• gnomAD v4: 17-75522007-ACAG-A
• MyVariant Identifiers: chr17:g.73518089_73518091del (hg19) ; chr17:g.75522008_75522010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522009_75522011del , CM000679.2:g.75522009_75522011del	GRCh38
NC_000017.10:g.73518090_73518092del , CM000679.1:g.73518090_73518092del	GRCh37
NC_000017.9:g.71029685_71029687del	NCBI36
NG_013041.1:g.10482_10484del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.928_930del MANE Select	ENSP00000327487.6:p.Ser310del
ENST00000434205.8:c.625_627del	ENSP00000406559.4:p.Ser209del
ENST00000545228.3:c.928_930del	ENSP00000438169.3:p.Ser310del
ENST00000579449.2:n.727_729del
ENST00000580013.6:n.1131_1133del
ENST00000679370.1:n.1509_1511del
ENST00000679429.1:c.*386_*388del	ENSP00000505403.1:n.*386_*388del
ENST00000679443.1:n.997_999del
ENST00000679782.1:c.928_930del	ENSP00000505995.1:p.Ser310del
ENST00000679919.1:n.997_999del
ENST00000679928.1:c.*539_*541del	ENSP00000506071.1:n.*539_*541del
ENST00000680528.1:n.953_955del
ENST00000680999.1:c.928_930del	ENSP00000504984.1:p.Ser310del
ENST00000681282.1:c.*174_*176del	ENSP00000506339.1:n.*174_*176del
ENST00000333213.10:c.928_930del	ENSP00000327487.6:p.Ser310del
ENST00000545228.2:c.17_19del
ENST00000578415.1:c.888_890del
ENST00000583173.5:c.461_463del	ENSP00000463619.1:p.Gln154del
NM_207346.2:c.928_930del	NP_997229.2:p.Ser310del
XM_005257229.2:c.928_930del	XP_005257286.1:p.Ser310del
XM_006721821.2:c.625_627del	XP_006721884.1:p.Ser209del
XM_011524616.1:c.928_930del	XP_011522918.1:p.Ser310del
XM_011524617.1:c.928_930del	XP_011522919.1:p.Ser310del
XM_011524618.1:c.928_930del	XP_011522920.1:p.Ser310del
XR_243646.2:n.958_960del
XM_005257229.4:c.928_930del	XP_005257286.1:p.Ser310del
XR_243646.4:n.964_966del
NM_207346.3:c.928_930del MANE Select	NP_997229.2:p.Ser310del