Canonical Allele Identifier: CA2657563210

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50525907-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525909dup , CM000684.2:g.50525909dup	GRCh38
NC_000022.10:g.50964338dup , CM000684.1:g.50964338dup	GRCh37
NC_000022.9:g.49311204dup	NCBI36
NG_011860.1:g.9178dup , LRG_727:g.9178dup
NG_016235.1:g.5532dup
NG_021419.1:g.22694dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1311dup (TYMP) MANE Select	ENSP00000252029.3:p.Leu438AlafsTer?
ENST00000395680.6:c.1311dup (TYMP)	ENSP00000379037.1:p.Leu438AlafsTer?
ENST00000395681.6:c.1326dup (TYMP)	ENSP00000379038.1:p.Leu443AlafsTer?
ENST00000543927.6:c.-14+338dup (SCO2)	ENSP00000444433.1:n.-14+338dup
ENST00000638598.2:c.-14+93dup (SCO2)	ENSP00000491753.2:n.-14+93dup
ENST00000651490.1:c.103dup (TYMP)
ENST00000652401.1:c.812dup (TYMP)
ENST00000252029.7:c.1311dup (TYMP)	ENSP00000252029.3:p.Leu438AlafsTer?
ENST00000395678.7:c.1311dup (TYMP)	ENSP00000379036.3:p.Leu438AlafsTer?
ENST00000395680.5:c.1311dup (TYMP)	ENSP00000379037.1:p.Leu438AlafsTer?
ENST00000395681.5:c.1326dup (TYMP)	ENSP00000379038.1:p.Leu443AlafsTer?
ENST00000423348.1:c.-14+338dup	ENSP00000403570.1:n.-14+338dup
ENST00000425169.1:c.1212dup (TYMP)	ENSP00000395875.1:p.Leu405AlafsTer?
ENST00000439934.5:c.-14+93dup	ENSP00000415642.1:n.-14+93dup
ENST00000476284.1:n.1421dup (TYMP)
ENST00000487577.5:n.1598dup (TYMP)
ENST00000535425.5:c.-14+93dup	ENSP00000444242.1:n.-14+93dup
ENST00000543927.5:c.-14+338dup	ENSP00000444433.1:n.-14+338dup
NM_001113755.2:c.1311dup (TYMP)	NP_001107227.1:p.Leu438AlafsTer?
NM_001113756.2:c.1311dup (TYMP)	NP_001107228.1:p.Leu438AlafsTer?
NM_001169109.1:c.-14+338dup (SCO2)	NP_001162580.1:n.-14+338dup
NM_001169110.1:c.-14+93dup (SCO2)	NP_001162581.1:n.-14+93dup
NM_001257988.1:c.1311dup , LRG_727t1:c.1311dup (TYMP)	NP_001244917.1:p.Leu438AlafsTer?
NM_001257989.1:c.1326dup , LRG_727t2:c.1326dup (TYMP)	NP_001244918.1:p.Leu443AlafsTer?
NM_001953.4:c.1311dup (TYMP)	NP_001944.1:p.Leu438AlafsTer?
NM_001113755.3:c.1311dup (TYMP)	NP_001107227.1:p.Leu438AlafsTer?
NM_001113756.3:c.1311dup (TYMP)	NP_001107228.1:p.Leu438AlafsTer?
NM_001953.5:c.1311dup (TYMP) MANE Select	NP_001944.1:p.Leu438AlafsTer?
NM_001169109.2:c.-14+338dup (SCO2)	NP_001162580.1:n.-14+338dup