Canonical Allele Identifier: CA2577766273

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526395_50526396insTT , CM000684.2:g.50526395_50526396insTT	GRCh38
NC_000022.10:g.50964824_50964825insTT , CM000684.1:g.50964824_50964825insTT	GRCh37
NC_000022.9:g.49311690_49311691insTT	NCBI36
NG_011860.1:g.8690_8691insAA , LRG_727:g.8690_8691insAA
NG_016235.1:g.5044_5045insAA
NG_021419.1:g.23180_23181insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1009_1010insAA (TYMP) MANE Select	ENSP00000252029.3:p.Gly337GlufsTer?
ENST00000395680.6:c.1009_1010insAA (TYMP)	ENSP00000379037.1:p.Gly337GlufsTer?
ENST00000395681.6:c.1009_1010insAA (TYMP)	ENSP00000379038.1:p.Gly337GlufsTer?
ENST00000543927.6:c.-164_-163insAA (SCO2)	ENSP00000444433.1:n.-164_-163insAA
ENST00000650719.1:c.890_891insAA (TYMP)	ENSP00000498276.1:p.Leu298SerfsTer?
ENST00000651401.1:c.493_494insAA (TYMP)	ENSP00000499115.1:p.Gly165GlufsTer?
ENST00000652401.1:c.510_511insAA (TYMP)
ENST00000252029.7:c.1009_1010insAA (TYMP)	ENSP00000252029.3:p.Gly337GlufsTer?
ENST00000395678.7:c.1009_1010insAA (TYMP)	ENSP00000379036.3:p.Gly337GlufsTer?
ENST00000395680.5:c.1009_1010insAA (TYMP)	ENSP00000379037.1:p.Gly337GlufsTer?
ENST00000395681.5:c.1009_1010insAA (TYMP)	ENSP00000379038.1:p.Gly337GlufsTer?
ENST00000423348.1:c.-164_-163insAA	ENSP00000403570.1:n.-164_-163insAA
ENST00000425169.1:c.910_911insAA (TYMP)	ENSP00000395875.1:p.Gly304GlufsTer?
ENST00000476284.1:n.1015_1016insAA (TYMP)
ENST00000487577.5:n.1296_1297insAA (TYMP)
ENST00000543927.5:c.-164_-163insAA	ENSP00000444433.1:n.-164_-163insAA
NM_001113755.2:c.1009_1010insAA (TYMP)	NP_001107227.1:p.Gly337GlufsTer?
NM_001113756.2:c.1009_1010insAA (TYMP)	NP_001107228.1:p.Gly337GlufsTer?
NM_001169109.1:c.-164_-163insAA (SCO2)	NP_001162580.1:n.-164_-163insAA
NM_001257988.1:c.1009_1010insAA , LRG_727t1:c.1009_1010insAA (TYMP)	NP_001244917.1:p.Gly337GlufsTer?
NM_001257989.1:c.1009_1010insAA , LRG_727t2:c.1009_1010insAA (TYMP)	NP_001244918.1:p.Gly337GlufsTer?
NM_001953.4:c.1009_1010insAA (TYMP)	NP_001944.1:p.Gly337GlufsTer?
NM_001113755.3:c.1009_1010insAA (TYMP)	NP_001107227.1:p.Gly337GlufsTer?
NM_001113756.3:c.1009_1010insAA (TYMP)	NP_001107228.1:p.Gly337GlufsTer?
NM_001953.5:c.1009_1010insAA (TYMP) MANE Select	NP_001944.1:p.Gly337GlufsTer?
NM_001169109.2:c.-164_-163insAA (SCO2)	NP_001162580.1:n.-164_-163insAA