Canonical Allele Identifier: CA2657564865

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50526386-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526389del , CM000684.2:g.50526389del	GRCh38
NC_000022.10:g.50964818del , CM000684.1:g.50964818del	GRCh37
NC_000022.9:g.49311684del	NCBI36
NG_011860.1:g.8699del , LRG_727:g.8699del
NG_016235.1:g.5053del
NG_021419.1:g.23174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1018del (TYMP) MANE Select	ENSP00000252029.3:p.Gly341AlafsTer?
ENST00000395680.6:c.1018del (TYMP)	ENSP00000379037.1:p.Gly341AlafsTer?
ENST00000395681.6:c.1018del (TYMP)	ENSP00000379038.1:p.Gly341AlafsTer?
ENST00000543927.6:c.-155del (SCO2)	ENSP00000444433.1:n.-155del
ENST00000650719.1:c.899del (TYMP)	ENSP00000498276.1:p.Pro300LeufsTer?
ENST00000651401.1:c.502del (TYMP)	ENSP00000499115.1:p.Gly169AlafsTer?
ENST00000652401.1:c.519del (TYMP)
ENST00000252029.7:c.1018del (TYMP)	ENSP00000252029.3:p.Gly341AlafsTer?
ENST00000395678.7:c.1018del (TYMP)	ENSP00000379036.3:p.Gly341AlafsTer?
ENST00000395680.5:c.1018del (TYMP)	ENSP00000379037.1:p.Gly341AlafsTer?
ENST00000395681.5:c.1018del (TYMP)	ENSP00000379038.1:p.Gly341AlafsTer?
ENST00000423348.1:c.-155del	ENSP00000403570.1:n.-155del
ENST00000425169.1:c.919del (TYMP)	ENSP00000395875.1:p.Gly308AlafsTer?
ENST00000476284.1:n.1024del (TYMP)
ENST00000487577.5:n.1305del (TYMP)
ENST00000543927.5:c.-155del	ENSP00000444433.1:n.-155del
NM_001113755.2:c.1018del (TYMP)	NP_001107227.1:p.Gly341AlafsTer?
NM_001113756.2:c.1018del (TYMP)	NP_001107228.1:p.Gly341AlafsTer?
NM_001169109.1:c.-155del (SCO2)	NP_001162580.1:n.-155del
NM_001257988.1:c.1018del , LRG_727t1:c.1018del (TYMP)	NP_001244917.1:p.Gly341AlafsTer?
NM_001257989.1:c.1018del , LRG_727t2:c.1018del (TYMP)	NP_001244918.1:p.Gly341AlafsTer?
NM_001953.4:c.1018del (TYMP)	NP_001944.1:p.Gly341AlafsTer?
NM_001113755.3:c.1018del (TYMP)	NP_001107227.1:p.Gly341AlafsTer?
NM_001113756.3:c.1018del (TYMP)	NP_001107228.1:p.Gly341AlafsTer?
NM_001953.5:c.1018del (TYMP) MANE Select	NP_001944.1:p.Gly341AlafsTer?
NM_001169109.2:c.-155del (SCO2)	NP_001162580.1:n.-155del