Canonical Allele Identifier: CA1685225386

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986754_5986759delinsTTTACC , CM000669.2:g.5986754_5986759delinsTTTACC	GRCh38
NC_000007.13:g.6026385_6026390delinsTTTACC , CM000669.1:g.6026385_6026390delinsTTTACC	GRCh37
NC_000007.12:g.5992911_5992916delinsTTTACC	NCBI36
NG_008466.1:g.27348_27353delinsGGTAAA , LRG_161:g.27348_27353delinsGGTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1402_*1402+5delinsGGTAAA
ENST00000699840.2:c.2003_2003+5delinsGGTAAA
ENST00000699930.2:c.1898_1898+5delinsGGTAAA
ENST00000406569.8:c.1678+328_1678+333delinsGGTAAA	ENSP00000514464.1:n.1678+328_1678+333deli...
ENST00000644110.2:c.*1600_*1600+5delinsGGTAAA
ENST00000699752.1:c.1850_1850+5delinsGGTAAA
ENST00000699753.1:c.*1427_*1427+5delinsGGTAAA
ENST00000699754.1:c.1808_1808+5delinsGGTAAA
ENST00000699755.1:c.*1405_*1405+5delinsGGTAAA
ENST00000699756.1:c.*1593_*1593+5delinsGGTAAA
ENST00000699757.1:c.*1263_*1263+5delinsGGTAAA
ENST00000699758.1:c.*1263_*1263+5delinsGGTAAA
ENST00000699759.1:n.2860_2860+5delinsGGTAAA
ENST00000699760.1:c.1688_1688+5delinsGGTAAA
ENST00000699761.1:c.1601_1601+5delinsGGTAAA
ENST00000699762.1:c.1433_1433+5delinsGGTAAA
ENST00000699763.1:c.*1096_*1096+5delinsGGTAAA
ENST00000699764.1:c.*324_*324+5delinsGGTAAA
ENST00000699765.1:c.*1102_*1102+5delinsGGTAAA
ENST00000699766.1:c.2006_2006+5delinsGGTAAA
ENST00000699767.1:c.2006_2006+5delinsGGTAAA
ENST00000699768.1:c.2006_2006+5delinsGGTAAA
ENST00000699811.1:c.1601_1601+5delinsGGTAAA
ENST00000699813.1:n.2119_2119+5delinsGGTAAA
ENST00000699814.1:c.1629_1629+5delinsGGTAAA
ENST00000699815.1:c.*1537_*1537+5delinsGGTAAA
ENST00000699816.1:c.*896_*896+5delinsGGTAAA
ENST00000699817.1:c.*1600_*1600+5delinsGGTAAA
ENST00000699818.1:c.1601_1601+5delinsGGTAAA
ENST00000699819.1:c.*1163_*1163+5delinsGGTAAA
ENST00000699820.1:c.1144+3041_1144+3046delinsGGTAAA	ENSP00000514621.1:n.1144+3041_1144+3046de...
ENST00000699821.1:c.1601_1601+5delinsGGTAAA
ENST00000699822.1:c.*1458_*1458+5delinsGGTAAA
ENST00000699823.1:c.1601_1601+5delinsGGTAAA
ENST00000699824.1:c.*1509_*1509+5delinsGGTAAA
ENST00000699825.1:c.1445_1445+5delinsGGTAAA
ENST00000699826.1:c.*1405_*1405+5delinsGGTAAA
ENST00000699827.1:c.1838_1838+5delinsGGTAAA
ENST00000699828.1:c.*1096_*1096+5delinsGGTAAA
ENST00000699833.1:n.3778_3778+5delinsGGTAAA
ENST00000699837.1:c.1601_1601+5delinsGGTAAA
ENST00000699838.1:c.*1906_*1906+5delinsGGTAAA
ENST00000699839.1:c.2192_2192+5delinsGGTAAA
ENST00000699916.1:c.*1263_*1263+5delinsGGTAAA
ENST00000699917.1:c.*1455_*1455+5delinsGGTAAA
ENST00000699918.1:c.*1507_*1507+5delinsGGTAAA
ENST00000699919.1:c.*1593_*1593+5delinsGGTAAA
ENST00000699920.1:c.*1642_*1642+5delinsGGTAAA
ENST00000699928.1:c.989-3768_989-3763delinsGGTAAA	ENSP00000514693.1:n.989-3768_989-3763deli...
ENST00000699951.1:c.*1102_*1102+5delinsGGTAAA
ENST00000699952.1:c.803+10567_803+10572delinsGGTAAA	ENSP00000514707.1:n.803+10567_803+10572de...
ENST00000265849.12:c.2006_2006+5delinsGGTAAA
ENST00000642292.1:c.1601_1601+5delinsGGTAAA
ENST00000642456.1:c.1601_1601+5delinsGGTAAA
ENST00000643595.1:c.*1405_*1405+5delinsGGTAAA
ENST00000644110.1:c.1688_1688+5delinsGGTAAA
ENST00000265849.11:c.2006_2006+5delinsGGTAAA
ENST00000382321.5:c.804-3768_804-3763delinsGGTAAA	ENSP00000371758.4:n.804-3768_804-3763deli...
ENST00000406569.7:n.1678+328_1678+333delinsGGTAAA
ENST00000441476.6:c.1688_1688+5delinsGGTAAA
ENST00000469652.1:n.63-3854_63-3849delinsGGTAAA
NM_000535.5:c.2006_2006+5delinsGGTAAA , LRG_161t1:c.2006_2006+5delinsGGTAAA
NR_003085.2:n.2088_2088+5delinsGGTAAA
XM_006715742.2:c.2000_2000+5delinsGGTAAA
XM_006715744.2:c.1073_1073+5delinsGGTAAA
XM_011515427.1:c.2051_2051+5delinsGGTAAA
XM_011515428.1:c.1895_1895+5delinsGGTAAA
XM_011515429.1:c.1688_1688+5delinsGGTAAA
XM_011515430.1:c.1688_1688+5delinsGGTAAA
NM_000535.6:c.2006_2006+5delinsGGTAAA
NM_001322003.1:c.1601_1601+5delinsGGTAAA
NM_001322004.1:c.1601_1601+5delinsGGTAAA
NM_001322005.1:c.1601_1601+5delinsGGTAAA
NM_001322006.1:c.1850_1850+5delinsGGTAAA
NM_001322007.1:c.1688_1688+5delinsGGTAAA
NM_001322008.1:c.1688_1688+5delinsGGTAAA
NM_001322009.1:c.1601_1601+5delinsGGTAAA
NM_001322010.1:c.1445_1445+5delinsGGTAAA
NM_001322011.1:c.1073_1073+5delinsGGTAAA
NM_001322012.1:c.1073_1073+5delinsGGTAAA
NM_001322013.1:c.1433_1433+5delinsGGTAAA
NM_001322014.1:c.2006_2006+5delinsGGTAAA
NM_001322015.1:c.1697_1697+5delinsGGTAAA
NR_136154.1:n.2093_2093+5delinsGGTAAA
XM_006715744.4:c.1073_1073+5delinsGGTAAA
XM_017012342.2:c.1073_1073+5delinsGGTAAA
XM_024446800.1:c.1445_1445+5delinsGGTAAA
NM_000535.7:c.2006_2006+5delinsGGTAAA
NM_001322003.2:c.1601_1601+5delinsGGTAAA
NM_001322004.2:c.1601_1601+5delinsGGTAAA
NM_001322005.2:c.1601_1601+5delinsGGTAAA
NM_001322006.2:c.1850_1850+5delinsGGTAAA
NM_001322008.2:c.1688_1688+5delinsGGTAAA
NM_001322009.2:c.1601_1601+5delinsGGTAAA
NM_001322010.2:c.1445_1445+5delinsGGTAAA
NM_001322011.2:c.1073_1073+5delinsGGTAAA
NM_001322012.2:c.1073_1073+5delinsGGTAAA
NM_001322013.2:c.1433_1433+5delinsGGTAAA
NM_001322014.2:c.2006_2006+5delinsGGTAAA
NM_001322015.2:c.1697_1697+5delinsGGTAAA
NM_001322007.2:c.1688_1688+5delinsGGTAAA