Canonical Allele Identifier: CA2657563828

Gene: TYMP SCO2

Linked Data

• gnomAD v4: 22-50525807-G-GAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50525812_50525858dup , CM000684.2:g.50525812_50525858dup	GRCh38
NC_000022.10:g.50964241_50964287dup , CM000684.1:g.50964241_50964287dup	GRCh37
NC_000022.9:g.49311107_49311153dup	NCBI36
NG_011860.1:g.9232_9278dup , LRG_727:g.9232_9278dup
NG_016235.1:g.5586_5632dup
NG_021419.1:g.22597_22643dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1365_1411dup (TYMP) MANE Select	ENSP00000252029.3:p.Ser471CysfsTer?
ENST00000395680.6:c.1365_1411dup (TYMP)	ENSP00000379037.1:p.Ser471CysfsTer?
ENST00000395681.6:c.1380_1426dup (TYMP)	ENSP00000379038.1:p.Ser476CysfsTer?
ENST00000543927.6:c.-14+392_-14+438dup (SCO2)	ENSP00000444433.1:n.-14+392_-14+438dup
ENST00000638598.2:c.-14+147_-14+193dup (SCO2)	ENSP00000491753.2:n.-14+147_-14+193dup
ENST00000651490.1:c.157_203dup (TYMP)
ENST00000252029.7:c.1365_1411dup (TYMP)	ENSP00000252029.3:p.Ser471CysfsTer?
ENST00000395678.7:c.1365_1411dup (TYMP)	ENSP00000379036.3:p.Ser471CysfsTer?
ENST00000395680.5:c.1365_1411dup (TYMP)	ENSP00000379037.1:p.Ser471CysfsTer?
ENST00000395681.5:c.1380_1426dup (TYMP)	ENSP00000379038.1:p.Ser476CysfsTer?
ENST00000423348.1:c.-14+392_-14+438dup	ENSP00000403570.1:n.-14+392_-14+438dup
ENST00000425169.1:c.1266_1312dup (TYMP)	ENSP00000395875.1:p.Ser438CysfsTer?
ENST00000439934.5:c.-14+147_-14+193dup	ENSP00000415642.1:n.-14+147_-14+193dup
ENST00000476284.1:n.1475_1521dup (TYMP)
ENST00000487577.5:n.1652_1698dup (TYMP)
ENST00000535425.5:c.-14+147_-14+193dup	ENSP00000444242.1:n.-14+147_-14+193dup
ENST00000543927.5:c.-14+392_-14+438dup	ENSP00000444433.1:n.-14+392_-14+438dup
NM_001113755.2:c.1365_1411dup (TYMP)	NP_001107227.1:p.Ser471CysfsTer?
NM_001113756.2:c.1365_1411dup (TYMP)	NP_001107228.1:p.Ser471CysfsTer?
NM_001169109.1:c.-14+392_-14+438dup (SCO2)	NP_001162580.1:n.-14+392_-14+438dup
NM_001169110.1:c.-14+147_-14+193dup (SCO2)	NP_001162581.1:n.-14+147_-14+193dup
NM_001257988.1:c.1365_1411dup , LRG_727t1:c.1365_1411dup (TYMP)	NP_001244917.1:p.Ser471CysfsTer?
NM_001257989.1:c.1380_1426dup , LRG_727t2:c.1380_1426dup (TYMP)	NP_001244918.1:p.Ser476CysfsTer?
NM_001953.4:c.1365_1411dup (TYMP)	NP_001944.1:p.Ser471CysfsTer?
NM_001113755.3:c.1365_1411dup (TYMP)	NP_001107227.1:p.Ser471CysfsTer?
NM_001113756.3:c.1365_1411dup (TYMP)	NP_001107228.1:p.Ser471CysfsTer?
NM_001953.5:c.1365_1411dup (TYMP) MANE Select	NP_001944.1:p.Ser471CysfsTer?
NM_001169109.2:c.-14+392_-14+438dup (SCO2)	NP_001162580.1:n.-14+392_-14+438dup