Canonical Allele Identifier: CA1315746121

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784428_189784429delinsGC , CM000664.2:g.189784428_189784429delinsGC	GRCh38
NC_000002.11:g.190649154_190649155delinsGC , CM000664.1:g.190649154_190649155delinsGC	GRCh37
NC_000002.10:g.190357399_190357400delinsGC	NCBI36
NG_008648.1:g.5344_5345delinsGC , LRG_221:g.5344_5345delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639501.1:c.-186_-185delinsGC	ENSP00000491236.1:n.-186_-185delinsGC
ENST00000418224.7:c.-186_-185delinsGC	ENSP00000404492.4:n.-186_-185delinsGC
ENST00000432292.7:c.-428_-427delinsGC	ENSP00000398378.3:n.-428_-427delinsGC
ENST00000441310.6:c.-186_-185delinsGC	ENSP00000406490.2:n.-186_-185delinsGC
ENST00000618056.4:c.-186_-185delinsGC	ENSP00000480632.1:n.-186_-185delinsGC
ENST00000624204.3:c.-611_-610delinsGC	ENSP00000485312.1:n.-611_-610delinsGC
NM_000534.4:c.-186_-185delinsGC , LRG_221t1:c.-186_-185delinsGC	NP_000525.1:n.-186_-185delinsGC
NM_001128143.1:c.-186_-185delinsGC	NP_001121615.1:n.-186_-185delinsGC
NM_001128144.1:c.-186_-185delinsGC	NP_001121616.1:n.-186_-185delinsGC
NM_001289408.1:c.-611_-610delinsGC	NP_001276337.1:n.-611_-610delinsGC
NM_001289409.1:c.-428_-427delinsGC	NP_001276338.1:n.-428_-427delinsGC
NR_110332.1:n.344_345delinsGC
NM_001321044.1:c.-186_-185delinsGC	NP_001307973.1:n.-186_-185delinsGC
NM_001321045.1:c.-312_-311delinsGC	NP_001307974.1:n.-312_-311delinsGC
NM_001321046.1:c.-186_-185delinsGC	NP_001307975.1:n.-186_-185delinsGC
NM_001321047.1:c.-363_-362delinsGC	NP_001307976.1:n.-363_-362delinsGC
NM_001321048.1:c.-283_-282delinsGC	NP_001307977.1:n.-283_-282delinsGC
NM_001321049.1:c.-186_-185delinsGC	NP_001307978.1:n.-186_-185delinsGC
NM_001321051.1:c.-186_-185delinsGC	NP_001307980.1:n.-186_-185delinsGC
XM_024452965.1:c.-157_-156delinsGC	XP_024308733.1:n.-157_-156delinsGC