Canonical Allele Identifier: CA1315746179
Gene: PMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189784493_189784505delinsTGGGTGCGGGTGC , CM000664.2:g.189784493_189784505delinsTGGGTGCGGGTGC GRCh38
NC_000002.11:g.190649219_190649231delinsTGGGTGCGGGTGC , CM000664.1:g.190649219_190649231delinsTGGGTGCGGGTGC GRCh37
NC_000002.10:g.190357464_190357476delinsTGGGTGCGGGTGC NCBI36
NG_008648.1:g.5409_5421delinsTGGGTGCGGGTGC , LRG_221:g.5409_5421delinsTGGGTGCGGGTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000441310.7:c.-121_-109delinsTGGGTGCGGGTGC MANE Select ENSP00000406490.3:n.-121_-109delinsTGGGTG...
ENST00000639501.1:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000491236.1:n.-121_-109delinsTGGGTG...
ENST00000342075.8:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000343888.4:n.-121_-109delinsTGGGTG...
ENST00000409985.5:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000386623.1:n.-121_-109delinsTGGGTG...
ENST00000418224.7:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000404492.4:n.-121_-109delinsTGGGTG...
ENST00000432292.7:c.-363_-351delinsTGGGTGCGGGTGC ENSP00000398378.3:n.-363_-351delinsTGGGTG...
ENST00000441310.6:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000406490.2:n.-121_-109delinsTGGGTG...
ENST00000446877.5:c.-424_-412delinsTGGGTGCGGGTGC ENSP00000413837.1:n.-424_-412delinsTGGGTG...
ENST00000618056.4:c.-121_-109delinsTGGGTGCGGGTGC ENSP00000480632.1:n.-121_-109delinsTGGGTG...
ENST00000624204.3:c.-546_-534delinsTGGGTGCGGGTGC ENSP00000485312.1:n.-546_-534delinsTGGGTG...
NM_000534.4:c.-121_-109delinsTGGGTGCGGGTGC , LRG_221t1:c.-121_-109delinsTGGGTGCGGGTGC NP_000525.1:n.-121_-109delinsTGGGTGCGGGTG...
NM_001128143.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001121615.1:n.-121_-109delinsTGGGTGCGG...
NM_001128144.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001121616.1:n.-121_-109delinsTGGGTGCGG...
NM_001289408.1:c.-546_-534delinsTGGGTGCGGGTGC NP_001276337.1:n.-546_-534delinsTGGGTGCGG...
NM_001289409.1:c.-363_-351delinsTGGGTGCGGGTGC NP_001276338.1:n.-363_-351delinsTGGGTGCGG...
NR_110332.1:n.409_421delinsTGGGTGCGGGTGC
XM_005246647.2:c.-247_-235delinsTGGGTGCGGGTGC XP_005246704.1:n.-247_-235delinsTGGGTGCGG...
XM_005246649.2:c.-121_-109delinsTGGGTGCGGGTGC XP_005246706.1:n.-121_-109delinsTGGGTGCGG...
XM_011511354.1:c.-218_-206delinsTGGGTGCGGGTGC XP_011509656.1:n.-218_-206delinsTGGGTGCGG...
XM_011511355.1:c.-121_-109delinsTGGGTGCGGGTGC XP_011509657.1:n.-121_-109delinsTGGGTGCGG...
XM_011511357.1:c.-121_-109delinsTGGGTGCGGGTGC XP_011509659.1:n.-121_-109delinsTGGGTGCGG...
XR_922951.1:n.44_56delinsTGGGTGCGGGTGC
NM_001321044.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001307973.1:n.-121_-109delinsTGGGTGCGG...
NM_001321045.1:c.-247_-235delinsTGGGTGCGGGTGC NP_001307974.1:n.-247_-235delinsTGGGTGCGG...
NM_001321046.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001307975.1:n.-121_-109delinsTGGGTGCGG...
NM_001321047.1:c.-298_-286delinsTGGGTGCGGGTGC NP_001307976.1:n.-298_-286delinsTGGGTGCGG...
NM_001321048.1:c.-218_-206delinsTGGGTGCGGGTGC NP_001307977.1:n.-218_-206delinsTGGGTGCGG...
NM_001321049.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001307978.1:n.-121_-109delinsTGGGTGCGG...
NM_001321051.1:c.-121_-109delinsTGGGTGCGGGTGC NP_001307980.1:n.-121_-109delinsTGGGTGCGG...
XM_017004344.1:c.-247_-235delinsTGGGTGCGGGTGC XP_016859833.1:n.-247_-235delinsTGGGTGCGG...
XM_017004345.1:c.-142_-130delinsTGGGTGCGGGTGC XP_016859834.1:n.-142_-130delinsTGGGTGCGG...
XM_017004346.2:c.-92_-80delinsTGGGTGCGGGTGC XP_016859835.1:n.-92_-80delinsTGGGTGCGGGT...
XM_017004347.1:c.-121_-109delinsTGGGTGCGGGTGC XP_016859836.1:n.-121_-109delinsTGGGTGCGG...
XM_017004350.1:c.-121_-109delinsTGGGTGCGGGTGC XP_016859839.1:n.-121_-109delinsTGGGTGCGG...
XM_024452964.1:c.-142_-130delinsTGGGTGCGGGTGC XP_024308732.1:n.-142_-130delinsTGGGTGCGG...
XM_024452965.1:c.-92_-80delinsTGGGTGCGGGTGC XP_024308733.1:n.-92_-80delinsTGGGTGCGGGT...
XM_024452966.1:c.-142_-130delinsTGGGTGCGGGTGC XP_024308734.1:n.-142_-130delinsTGGGTGCGG...
XM_024452967.1:c.-92_-80delinsTGGGTGCGGGTGC XP_024308735.1:n.-92_-80delinsTGGGTGCGGGT...
XM_024452968.1:c.-517_-505delinsTGGGTGCGGGTGC XP_024308736.1:n.-517_-505delinsTGGGTGCGG...
XR_001738779.1:n.9_21delinsTGGGTGCGGGTGC
XR_922951.2:n.38_50delinsTGGGTGCGGGTGC
NM_000534.5:c.-121_-109delinsTGGGTGCGGGTGC MANE Select NP_000525.1:n.-121_-109delinsTGGGTGCGGGTG...
NM_001128143.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001121615.1:n.-121_-109delinsTGGGTGCGG...
NM_001128144.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001121616.1:n.-121_-109delinsTGGGTGCGG...
NM_001321044.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001307973.1:n.-121_-109delinsTGGGTGCGG...
NM_001321045.2:c.-247_-235delinsTGGGTGCGGGTGC NP_001307974.1:n.-247_-235delinsTGGGTGCGG...
NM_001321046.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001307975.1:n.-121_-109delinsTGGGTGCGG...
NM_001321047.2:c.-298_-286delinsTGGGTGCGGGTGC NP_001307976.1:n.-298_-286delinsTGGGTGCGG...
NM_001321048.2:c.-218_-206delinsTGGGTGCGGGTGC NP_001307977.1:n.-218_-206delinsTGGGTGCGG...
NM_001321049.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001307978.1:n.-121_-109delinsTGGGTGCGG...
NR_110332.2:n.44_56delinsTGGGTGCGGGTGC
NM_001289408.2:c.-546_-534delinsTGGGTGCGGGTGC NP_001276337.1:n.-546_-534delinsTGGGTGCGG...
NM_001289409.2:c.-363_-351delinsTGGGTGCGGGTGC NP_001276338.1:n.-363_-351delinsTGGGTGCGG...
NM_001321051.2:c.-121_-109delinsTGGGTGCGGGTGC NP_001307980.1:n.-121_-109delinsTGGGTGCGG...