Canonical Allele Identifier: CA2695231155

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526017_50526018delinsTT , CM000684.2:g.50526017_50526018delinsTT	GRCh38
NC_000022.10:g.50964446_50964447delinsTT , CM000684.1:g.50964446_50964447delinsTT	GRCh37
NC_000022.9:g.49311312_49311313delinsTT	NCBI36
NG_011860.1:g.9068_9069delinsAA , LRG_727:g.9068_9069delinsAA
NG_016235.1:g.5422_5423delinsAA
NG_021419.1:g.22802_22803delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.1283_1284delinsAA (TYMP) MANE Select	ENSP00000252029.3:p.Gly428Glu
ENST00000395680.6:c.1283_1284delinsAA (TYMP)	ENSP00000379037.1:p.Gly428Glu
ENST00000395681.6:c.1298_1299delinsAA (TYMP)	ENSP00000379038.1:p.Gly433Glu
ENST00000543927.6:c.-14+228_-14+229delinsAA (SCO2)	ENSP00000444433.1:n.-14+228_-14+229delinsAA
ENST00000638598.2:c.-31_-30delinsAA (SCO2)	ENSP00000491753.2:n.-31_-30delinsAA
ENST00000651490.1:c.93-100_93-99delinsAA (TYMP)
ENST00000652401.1:c.784_785delinsAA (TYMP)
ENST00000252029.7:c.1283_1284delinsAA (TYMP)	ENSP00000252029.3:p.Gly428Glu
ENST00000395678.7:c.1283_1284delinsAA (TYMP)	ENSP00000379036.3:p.Gly428Glu
ENST00000395680.5:c.1283_1284delinsAA (TYMP)	ENSP00000379037.1:p.Gly428Glu
ENST00000395681.5:c.1298_1299delinsAA (TYMP)	ENSP00000379038.1:p.Gly433Glu
ENST00000423348.1:c.-14+228_-14+229delinsAA	ENSP00000403570.1:n.-14+228_-14+229delinsAA
ENST00000425169.1:c.1184_1185delinsAA (TYMP)	ENSP00000395875.1:p.Gly395Glu
ENST00000439934.5:c.-31_-30delinsAA	ENSP00000415642.1:n.-31_-30delinsAA
ENST00000476284.1:n.1393_1394delinsAA (TYMP)
ENST00000487577.5:n.1570_1571delinsAA (TYMP)
ENST00000535425.5:c.-31_-30delinsAA	ENSP00000444242.1:n.-31_-30delinsAA
ENST00000543927.5:c.-14+228_-14+229delinsAA	ENSP00000444433.1:n.-14+228_-14+229delinsAA
NM_001113755.2:c.1283_1284delinsAA (TYMP)	NP_001107227.1:p.Gly428Glu
NM_001113756.2:c.1283_1284delinsAA (TYMP)	NP_001107228.1:p.Gly428Glu
NM_001169109.1:c.-14+228_-14+229delinsAA (SCO2)	NP_001162580.1:n.-14+228_-14+229delinsAA
NM_001169110.1:c.-31_-30delinsAA (SCO2)	NP_001162581.1:n.-31_-30delinsAA
NM_001257988.1:c.1283_1284delinsAA , LRG_727t1:c.1283_1284delinsAA (TYMP)	NP_001244917.1:p.Gly428Glu
NM_001257989.1:c.1298_1299delinsAA , LRG_727t2:c.1298_1299delinsAA (TYMP)	NP_001244918.1:p.Gly433Glu
NM_001953.4:c.1283_1284delinsAA (TYMP)	NP_001944.1:p.Gly428Glu
NM_001113755.3:c.1283_1284delinsAA (TYMP)	NP_001107227.1:p.Gly428Glu
NM_001113756.3:c.1283_1284delinsAA (TYMP)	NP_001107228.1:p.Gly428Glu
NM_001953.5:c.1283_1284delinsAA (TYMP) MANE Select	NP_001944.1:p.Gly428Glu
NM_001169109.2:c.-14+228_-14+229delinsAA (SCO2)	NP_001162580.1:n.-14+228_-14+229delinsAA