Canonical Allele Identifier: CA920391482

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs1556486232
• gnomAD v3: 22-50525969-T-TGCGGGGCCAGCAGGGCGGGGGC
• gnomAD v4: 22-50525969-T-TGCGGGGCCAGCAGGGCGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525971_50525992dup , CM000684.2:g.50525971_50525992dup	GRCh38
NC_000022.10:g.50964400_50964421dup , CM000684.1:g.50964400_50964421dup	GRCh37
NC_000022.9:g.49311266_49311287dup	NCBI36
NG_011860.1:g.9095_9116dup , LRG_727:g.9095_9116dup
NG_016235.1:g.5449_5470dup
NG_021419.1:g.22756_22777dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1300+10_1300+31dup (TYMP) MANE Select	ENSP00000252029.3:n.1300+10_1300+31dup
ENST00000395680.6:c.1300+10_1300+31dup (TYMP)	ENSP00000379037.1:n.1300+10_1300+31dup
ENST00000395681.6:c.1315+10_1315+31dup (TYMP)	ENSP00000379038.1:n.1315+10_1315+31dup
ENST00000543927.6:c.-14+255_-14+276dup (SCO2)	ENSP00000444433.1:n.-14+255_-14+276dup
ENST00000638598.2:c.-14+10_-14+31dup (SCO2)	ENSP00000491753.2:n.-14+10_-14+31dup
ENST00000651490.1:c.93-73_93-52dup (TYMP)
ENST00000652401.1:c.801+10_801+31dup (TYMP)
ENST00000252029.7:c.1300+10_1300+31dup (TYMP)	ENSP00000252029.3:n.1300+10_1300+31dup
ENST00000395678.7:c.1300+10_1300+31dup (TYMP)	ENSP00000379036.3:n.1300+10_1300+31dup
ENST00000395680.5:c.1300+10_1300+31dup (TYMP)	ENSP00000379037.1:n.1300+10_1300+31dup
ENST00000395681.5:c.1315+10_1315+31dup (TYMP)	ENSP00000379038.1:n.1315+10_1315+31dup
ENST00000423348.1:c.-14+255_-14+276dup	ENSP00000403570.1:n.-14+255_-14+276dup
ENST00000425169.1:c.1201+10_1201+31dup (TYMP)	ENSP00000395875.1:n.1201+10_1201+31dup
ENST00000439934.5:c.-14+10_-14+31dup	ENSP00000415642.1:n.-14+10_-14+31dup
ENST00000476284.1:n.1410+10_1410+31dup (TYMP)
ENST00000487577.5:n.1587+10_1587+31dup (TYMP)
ENST00000535425.5:c.-14+10_-14+31dup	ENSP00000444242.1:n.-14+10_-14+31dup
ENST00000543927.5:c.-14+255_-14+276dup	ENSP00000444433.1:n.-14+255_-14+276dup
NM_001113755.2:c.1300+10_1300+31dup (TYMP)	NP_001107227.1:n.1300+10_1300+31dup
NM_001113756.2:c.1300+10_1300+31dup (TYMP)	NP_001107228.1:n.1300+10_1300+31dup
NM_001169109.1:c.-14+255_-14+276dup (SCO2)	NP_001162580.1:n.-14+255_-14+276dup
NM_001169110.1:c.-14+10_-14+31dup (SCO2)	NP_001162581.1:n.-14+10_-14+31dup
NM_001257988.1:c.1300+10_1300+31dup , LRG_727t1:c.1300+10_1300+31dup (TYMP)	NP_001244917.1:n.1300+10_1300+31dup
NM_001257989.1:c.1315+10_1315+31dup , LRG_727t2:c.1315+10_1315+31dup (TYMP)	NP_001244918.1:n.1315+10_1315+31dup
NM_001953.4:c.1300+10_1300+31dup (TYMP)	NP_001944.1:n.1300+10_1300+31dup
NM_001113755.3:c.1300+10_1300+31dup (TYMP)	NP_001107227.1:n.1300+10_1300+31dup
NM_001113756.3:c.1300+10_1300+31dup (TYMP)	NP_001107228.1:n.1300+10_1300+31dup
NM_001953.5:c.1300+10_1300+31dup (TYMP) MANE Select	NP_001944.1:n.1300+10_1300+31dup
NM_001169109.2:c.-14+255_-14+276dup (SCO2)	NP_001162580.1:n.-14+255_-14+276dup