Canonical Allele Identifier: CA2541341874

Gene: PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189813753_189813754del , CM000664.2:g.189813753_189813754del	GRCh38
NC_000002.11:g.190678479_190678480del , CM000664.1:g.190678479_190678480del	GRCh37
NC_000002.10:g.190386724_190386725del	NCBI36
NG_008648.1:g.34669_34670del , LRG_221:g.34669_34670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000441310.7:c.419-4264_419-4263del MANE Select	ENSP00000406490.3:n.419-4264_419-4263del
ENST00000639501.1:c.419-4264_419-4263del	ENSP00000491236.1:n.419-4264_419-4263del
ENST00000342075.8:c.316-4264_316-4263del	ENSP00000343888.4:n.316-4264_316-4263del
ENST00000409823.7:c.419-4264_419-4263del	ENSP00000387125.3:n.419-4264_419-4263del
ENST00000418224.7:c.419-4264_419-4263del	ENSP00000404492.4:n.419-4264_419-4263del
ENST00000421722.5:n.505-4264_505-4263del
ENST00000424059.1:n.419-4264_419-4263del
ENST00000424307.5:c.236-4264_236-4263del	ENSP00000389938.1:n.236-4264_236-4263del
ENST00000424766.5:c.419-4264_419-4263del	ENSP00000410082.1:n.419-4264_419-4263del
ENST00000432292.7:c.-110-4264_-110-4263del	ENSP00000398378.3:n.-110-4264_-110-4263de...
ENST00000441310.6:c.419-4264_419-4263del	ENSP00000406490.2:n.419-4264_419-4263del
ENST00000447232.6:c.419-4264_419-4263del	ENSP00000401064.2:n.419-4264_419-4263del
ENST00000447734.5:c.133-4264_133-4263del	ENSP00000411151.1:n.133-4264_133-4263del
ENST00000450931.5:c.419-4264_419-4263del	ENSP00000406225.1:n.419-4264_419-4263del
ENST00000618056.4:c.419-4264_419-4263del	ENSP00000480632.1:n.419-4264_419-4263del
ENST00000624204.3:c.-110-4264_-110-4263del	ENSP00000485312.1:n.-110-4264_-110-4263de...
NM_000534.4:c.419-4264_419-4263del , LRG_221t1:c.419-4264_419-4263del	NP_000525.1:n.419-4264_419-4263del
NM_001128143.1:c.419-4264_419-4263del	NP_001121615.1:n.419-4264_419-4263del
NM_001128144.1:c.419-4264_419-4263del	NP_001121616.1:n.419-4264_419-4263del
NM_001289408.1:c.-110-4264_-110-4263del	NP_001276337.1:n.-110-4264_-110-4263del
NM_001289409.1:c.-110-4264_-110-4263del	NP_001276338.1:n.-110-4264_-110-4263del
NR_110332.1:n.1045-4264_1045-4263del
XM_005246647.2:c.419-4264_419-4263del	XP_005246704.1:n.419-4264_419-4263del
XM_005246649.2:c.419-4264_419-4263del	XP_005246706.1:n.419-4264_419-4263del
XM_011511353.1:c.419-4264_419-4263del	XP_011509655.1:n.419-4264_419-4263del
XM_011511354.1:c.419-4264_419-4263del	XP_011509656.1:n.419-4264_419-4263del
XM_011511355.1:c.236-4264_236-4263del	XP_011509657.1:n.236-4264_236-4263del
XM_011511356.1:c.-111+1118_-111+1119del	XP_011509658.1:n.-111+1118_-111+1119del
XM_011511357.1:c.419-4264_419-4263del	XP_011509659.1:n.419-4264_419-4263del
XR_922951.1:n.583-4264_583-4263del
NM_001321044.1:c.419-4264_419-4263del	NP_001307973.1:n.419-4264_419-4263del
NM_001321045.1:c.419-4264_419-4263del	NP_001307974.1:n.419-4264_419-4263del
NM_001321046.1:c.236-4264_236-4263del	NP_001307975.1:n.236-4264_236-4263del
NM_001321047.1:c.419-4264_419-4263del	NP_001307976.1:n.419-4264_419-4263del
NM_001321048.1:c.419-4264_419-4263del	NP_001307977.1:n.419-4264_419-4263del
XM_011511356.3:c.-111+1118_-111+1119del	XP_011509658.1:n.-111+1118_-111+1119del
XM_017004344.1:c.419-4264_419-4263del	XP_016859833.1:n.419-4264_419-4263del
XM_017004345.1:c.236-4264_236-4263del	XP_016859834.1:n.236-4264_236-4263del
XM_017004346.2:c.236-4264_236-4263del	XP_016859835.1:n.236-4264_236-4263del
XM_017004347.1:c.236-4264_236-4263del	XP_016859836.1:n.236-4264_236-4263del
XM_017004348.1:c.419-4264_419-4263del	XP_016859837.1:n.419-4264_419-4263del
XM_017004349.2:c.-111+1118_-111+1119del	XP_016859838.1:n.-111+1118_-111+1119del
XM_017004350.1:c.236-4264_236-4263del	XP_016859839.1:n.236-4264_236-4263del
XM_024452964.1:c.419-4264_419-4263del	XP_024308732.1:n.419-4264_419-4263del
XM_024452965.1:c.419-4264_419-4263del	XP_024308733.1:n.419-4264_419-4263del
XM_024452966.1:c.419-4264_419-4263del	XP_024308734.1:n.419-4264_419-4263del
XM_024452967.1:c.419-4264_419-4263del	XP_024308735.1:n.419-4264_419-4263del
XM_024452968.1:c.-110-4264_-110-4263del	XP_024308736.1:n.-110-4264_-110-4263del
XM_024452969.1:c.-110-4264_-110-4263del	XP_024308737.1:n.-110-4264_-110-4263del
XR_001738779.1:n.674-4264_674-4263del
XR_002959307.1:n.679-4264_679-4263del
XR_922951.2:n.577-4264_577-4263del
NM_000534.5:c.419-4264_419-4263del MANE Select	NP_000525.1:n.419-4264_419-4263del
NM_001128143.2:c.419-4264_419-4263del	NP_001121615.1:n.419-4264_419-4263del
NM_001128144.2:c.419-4264_419-4263del	NP_001121616.1:n.419-4264_419-4263del
NM_001321044.2:c.419-4264_419-4263del	NP_001307973.1:n.419-4264_419-4263del
NM_001321045.2:c.419-4264_419-4263del	NP_001307974.1:n.419-4264_419-4263del
NM_001321046.2:c.236-4264_236-4263del	NP_001307975.1:n.236-4264_236-4263del
NM_001321047.2:c.419-4264_419-4263del	NP_001307976.1:n.419-4264_419-4263del
NM_001321048.2:c.419-4264_419-4263del	NP_001307977.1:n.419-4264_419-4263del
NR_110332.2:n.680-4264_680-4263del
NM_001289408.2:c.-110-4264_-110-4263del	NP_001276337.1:n.-110-4264_-110-4263del
NM_001289409.2:c.-110-4264_-110-4263del	NP_001276338.1:n.-110-4264_-110-4263del