Canonical Allele Identifier: CA2657565042

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50526419-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526422del , CM000684.2:g.50526422del	GRCh38
NC_000022.10:g.50964851del , CM000684.1:g.50964851del	GRCh37
NC_000022.9:g.49311717del	NCBI36
NG_011860.1:g.8666del , LRG_727:g.8666del
NG_016235.1:g.5020del
NG_021419.1:g.23207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.985del (TYMP) MANE Select	ENSP00000252029.3:p.Arg329GlyfsTer?
ENST00000395680.6:c.985del (TYMP)	ENSP00000379037.1:p.Arg329GlyfsTer?
ENST00000395681.6:c.985del (TYMP)	ENSP00000379038.1:p.Arg329GlyfsTer?
ENST00000543927.6:c.-188del (SCO2)	ENSP00000444433.1:n.-188del
ENST00000650719.1:c.866del (TYMP)	ENSP00000498276.1:p.Pro289ArgfsTer?
ENST00000651401.1:c.469del (TYMP)	ENSP00000499115.1:p.Arg157GlyfsTer?
ENST00000652401.1:c.486del (TYMP)
ENST00000252029.7:c.985del (TYMP)	ENSP00000252029.3:p.Arg329GlyfsTer?
ENST00000395678.7:c.985del (TYMP)	ENSP00000379036.3:p.Arg329GlyfsTer?
ENST00000395680.5:c.985del (TYMP)	ENSP00000379037.1:p.Arg329GlyfsTer?
ENST00000395681.5:c.985del (TYMP)	ENSP00000379038.1:p.Arg329GlyfsTer?
ENST00000423348.1:c.-188del	ENSP00000403570.1:n.-188del
ENST00000425169.1:c.886del (TYMP)	ENSP00000395875.1:p.Arg296GlyfsTer?
ENST00000476284.1:n.991del (TYMP)
ENST00000487577.5:n.1272del (TYMP)
ENST00000543927.5:c.-188del	ENSP00000444433.1:n.-188del
NM_001113755.2:c.985del (TYMP)	NP_001107227.1:p.Arg329GlyfsTer?
NM_001113756.2:c.985del (TYMP)	NP_001107228.1:p.Arg329GlyfsTer?
NM_001169109.1:c.-188del (SCO2)	NP_001162580.1:n.-188del
NM_001257988.1:c.985del , LRG_727t1:c.985del (TYMP)	NP_001244917.1:p.Arg329GlyfsTer?
NM_001257989.1:c.985del , LRG_727t2:c.985del (TYMP)	NP_001244918.1:p.Arg329GlyfsTer?
NM_001953.4:c.985del (TYMP)	NP_001944.1:p.Arg329GlyfsTer?
NM_001113755.3:c.985del (TYMP)	NP_001107227.1:p.Arg329GlyfsTer?
NM_001113756.3:c.985del (TYMP)	NP_001107228.1:p.Arg329GlyfsTer?
NM_001953.5:c.985del (TYMP) MANE Select	NP_001944.1:p.Arg329GlyfsTer?
NM_001169109.2:c.-188del (SCO2)	NP_001162580.1:n.-188del