Canonical Allele Identifier: CA1685260200

Gene: PMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6002452_6002455delinsCCTT , CM000669.2:g.6002452_6002455delinsCCTT	GRCh38
NC_000007.13:g.6042083_6042086delinsCCTT , CM000669.1:g.6042083_6042086delinsCCTT	GRCh37
NC_000007.12:g.6008609_6008612delinsCCTT	NCBI36
NG_008466.1:g.11652_11655delinsAAGG , LRG_161:g.11652_11655delinsAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*129_*131+1delinsAAGG
ENST00000699840.2:c.535_537+1delinsAAGG
ENST00000699930.2:c.535_537+1delinsAAGG
ENST00000406569.8:c.535_537+1delinsAAGG
ENST00000644110.2:c.*129_*131+1delinsAAGG
ENST00000699752.1:c.535_537+1delinsAAGG
ENST00000699753.1:c.130_132+1delinsAAGG
ENST00000699754.1:c.535_537+1delinsAAGG
ENST00000699755.1:c.130_132+1delinsAAGG
ENST00000699756.1:c.*122_*124+1delinsAAGG
ENST00000699757.1:c.35+1517_35+1520delinsAAGG	ENSP00000514566.1:n.35+1517_35+1520delins...
ENST00000699758.1:c.250+1517_250+1520delinsAAGG	ENSP00000514567.1:n.250+1517_250+1520deli...
ENST00000699759.1:n.607_609+1delinsAAGG
ENST00000699760.1:c.217_219+1delinsAAGG
ENST00000699761.1:c.130_132+1delinsAAGG
ENST00000699762.1:c.130_132+1delinsAAGG
ENST00000699763.1:c.130_132+1delinsAAGG
ENST00000699764.1:c.535_537+1delinsAAGG
ENST00000699765.1:c.217_219+1delinsAAGG
ENST00000699766.1:c.535_537+1delinsAAGG
ENST00000699767.1:c.535_537+1delinsAAGG
ENST00000699768.1:c.535_537+1delinsAAGG
ENST00000699769.1:n.615_617+1delinsAAGG
ENST00000699811.1:c.130_132+1delinsAAGG
ENST00000699813.1:n.697_699+1delinsAAGG
ENST00000699814.1:c.356_358+1delinsAAGG
ENST00000699815.1:c.130_132+1delinsAAGG
ENST00000699816.1:c.130_132+1delinsAAGG
ENST00000699817.1:c.*129_*131+1delinsAAGG
ENST00000699818.1:c.130_132+1delinsAAGG
ENST00000699819.1:c.117_119+1delinsAAGG
ENST00000699820.1:c.535_537+1delinsAAGG
ENST00000699821.1:c.130_132+1delinsAAGG
ENST00000699822.1:c.130_132+1delinsAAGG
ENST00000699823.1:c.130_132+1delinsAAGG
ENST00000699824.1:c.535_537+1delinsAAGG
ENST00000699825.1:c.130_132+1delinsAAGG
ENST00000699826.1:c.130_132+1delinsAAGG
ENST00000699827.1:c.535_537+1delinsAAGG
ENST00000699828.1:c.535_537+1delinsAAGG
ENST00000699829.1:c.130_132+1delinsAAGG
ENST00000699830.1:c.535_537+1delinsAAGG
ENST00000699831.1:n.496_498+1delinsAAGG
ENST00000699832.1:n.818_820+1delinsAAGG
ENST00000699833.1:n.615_617+1delinsAAGG
ENST00000699834.1:n.741_743+1delinsAAGG
ENST00000699837.1:c.130_132+1delinsAAGG
ENST00000699838.1:c.*435_*437+1delinsAAGG
ENST00000699839.1:c.721_723+1delinsAAGG
ENST00000699840.1:c.535_537+1delinsAAGG
ENST00000699916.1:c.130_133delinsAAGG	ENSP00000514684.1:p.Lys44=
ENST00000699917.1:c.535_537+1delinsAAGG
ENST00000699918.1:c.535_537+1delinsAAGG
ENST00000699919.1:c.535_537+1delinsAAGG
ENST00000699920.1:c.535_537+1delinsAAGG
ENST00000699928.1:c.535_537+1delinsAAGG
ENST00000699929.1:c.535_537+1delinsAAGG
ENST00000699930.1:c.535_537+1delinsAAGG
ENST00000699931.1:n.646_648+1delinsAAGG
ENST00000699932.1:c.535_537+1delinsAAGG
ENST00000699933.1:n.615_617+1delinsAAGG
ENST00000699951.1:c.535_537+1delinsAAGG
ENST00000699952.1:c.535_537+1delinsAAGG
ENST00000699953.1:c.535_537+1delinsAAGG
ENST00000699954.1:c.535_537+1delinsAAGG
ENST00000265849.12:c.535_537+1delinsAAGG
ENST00000642292.1:c.130_132+1delinsAAGG
ENST00000642456.1:c.130_132+1delinsAAGG
ENST00000643595.1:c.535_537+1delinsAAGG
ENST00000644110.1:c.217_219+1delinsAAGG
ENST00000265849.11:c.535_537+1delinsAAGG
ENST00000380416.5:n.614_617delinsAAGG
ENST00000382321.5:c.535_537+1delinsAAGG
ENST00000406569.7:n.535_537+1delinsAAGG
ENST00000441476.6:c.217_219+1delinsAAGG
ENST00000469652.1:n.62+3538_62+3541delinsAAGG
NM_000535.5:c.535_537+1delinsAAGG , LRG_161t1:c.535_537+1delinsAAGG
NR_003085.2:n.617_619+1delinsAAGG
XM_006715742.2:c.529_531+1delinsAAGG
XM_011515427.1:c.580_582+1delinsAAGG
XM_011515428.1:c.580_582+1delinsAAGG
XM_011515429.1:c.217_219+1delinsAAGG
XM_011515430.1:c.217_219+1delinsAAGG
NM_000535.6:c.535_537+1delinsAAGG
NM_001322003.1:c.130_132+1delinsAAGG
NM_001322004.1:c.130_132+1delinsAAGG
NM_001322005.1:c.130_132+1delinsAAGG
NM_001322006.1:c.535_537+1delinsAAGG
NM_001322007.1:c.217_219+1delinsAAGG
NM_001322008.1:c.217_219+1delinsAAGG
NM_001322009.1:c.130_132+1delinsAAGG
NM_001322010.1:c.130_132+1delinsAAGG
NM_001322011.1:c.-350_-348+1delinsAAGG
NM_001322012.1:c.-350_-348+1delinsAAGG
NM_001322013.1:c.130_132+1delinsAAGG
NM_001322014.1:c.535_537+1delinsAAGG
NM_001322015.1:c.226_228+1delinsAAGG
NR_136154.1:n.622_624+1delinsAAGG
XM_017012342.2:c.-250_-248+1delinsAAGG
XM_024446800.1:c.130_132+1delinsAAGG
NM_000535.7:c.535_537+1delinsAAGG
NM_001322003.2:c.130_132+1delinsAAGG
NM_001322004.2:c.130_132+1delinsAAGG
NM_001322005.2:c.130_132+1delinsAAGG
NM_001322006.2:c.535_537+1delinsAAGG
NM_001322008.2:c.217_219+1delinsAAGG
NM_001322009.2:c.130_132+1delinsAAGG
NM_001322010.2:c.130_132+1delinsAAGG
NM_001322011.2:c.-350_-348+1delinsAAGG
NM_001322012.2:c.-350_-348+1delinsAAGG
NM_001322013.2:c.130_132+1delinsAAGG
NM_001322014.2:c.535_537+1delinsAAGG
NM_001322015.2:c.226_228+1delinsAAGG
NM_001322007.2:c.217_219+1delinsAAGG