Canonical Allele Identifier: CA2148328680

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306089_77306090delinsAG , CM000676.2:g.77306089_77306090delinsAG	GRCh38
NC_000014.8:g.77772432_77772433delinsAG , CM000676.1:g.77772432_77772433delinsAG	GRCh37
NC_000014.7:g.76842185_76842186delinsAG	NCBI36
NG_008897.1:g.19793_19794delinsCT , LRG_844:g.19793_19794delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.414_415delinsCT
ENST00000556394.2:c.249-1290_249-1289delinsCT	ENSP00000451967.2:n.249-1290_249-1289delinsCT
ENST00000556880.6:n.462+156_462+157delinsCT
ENST00000682247.1:c.438+247_438+248delinsCT	ENSP00000507213.1:n.438+247_438+248delinsCT
ENST00000682382.1:c.386+247_386+248delinsCT
ENST00000682395.1:n.167+247_167+248delinsCT
ENST00000682459.1:n.102+312_102+313delinsCT
ENST00000682467.1:c.438+247_438+248delinsCT	ENSP00000508062.1:n.438+247_438+248delinsCT
ENST00000682795.1:c.438+247_438+248delinsCT	ENSP00000507574.1:n.438+247_438+248delinsCT
ENST00000682895.1:n.154+247_154+248delinsCT
ENST00000682955.1:n.102+312_102+313delinsCT
ENST00000683188.1:c.233+247_233+248delinsCT
ENST00000683380.1:n.102+312_102+313delinsCT
ENST00000683828.1:c.307+247_307+248delinsCT
ENST00000684102.1:n.431_432delinsCT
ENST00000684259.1:n.289+247_289+248delinsCT
ENST00000684479.1:n.106-230_106-229delinsCT
ENST00000684549.1:n.258+156_258+157delinsCT
ENST00000684600.1:c.252+247_252+248delinsCT
ENST00000684670.1:n.105+247_105+248delinsCT
ENST00000261534.9:c.438+247_438+248delinsCT MANE Select	ENSP00000261534.4:n.438+247_438+248delinsCT
ENST00000261534.8:c.438+247_438+248delinsCT	ENSP00000261534.4:n.438+247_438+248delinsCT
ENST00000452340.7:n.461+247_461+248delinsCT
ENST00000553863.5:n.102+312_102+313delinsCT
ENST00000554948.1:c.165+247_165+248delinsCT	ENSP00000452060.1:n.165+247_165+248delinsCT
ENST00000555675.5:n.154+247_154+248delinsCT
ENST00000555788.5:n.363+156_363+157delinsCT
ENST00000556326.5:c.*104+247_*104+248delinsCT	ENSP00000450630.1:n.*104+247_*104+248delinsCT
ENST00000556880.5:n.462+156_462+157delinsCT
ENST00000557525.1:n.528+247_528+248delinsCT
NM_013382.5:c.438+247_438+248delinsCT , LRG_844t1:c.438+247_438+248delinsCT	NP_037514.2:n.438+247_438+248delinsCT
XM_011536675.1:c.438+247_438+248delinsCT	XP_011534977.1:n.438+247_438+248delinsCT
XM_011536676.1:c.105+247_105+248delinsCT	XP_011534978.1:n.105+247_105+248delinsCT
XM_011536677.1:c.438+247_438+248delinsCT	XP_011534979.1:n.438+247_438+248delinsCT
XM_011536678.1:c.438+247_438+248delinsCT	XP_011534980.1:n.438+247_438+248delinsCT
XM_011536679.1:c.-200+156_-200+157delinsCT	XP_011534981.1:n.-200+156_-200+157delinsCT
XM_011536680.1:c.438+247_438+248delinsCT	XP_011534982.1:n.438+247_438+248delinsCT
XR_943416.1:n.641+247_641+248delinsCT
XM_011536675.2:c.438+247_438+248delinsCT	XP_011534977.1:n.438+247_438+248delinsCT
XM_011536676.2:c.105+247_105+248delinsCT	XP_011534978.1:n.105+247_105+248delinsCT
XM_011536677.3:c.438+247_438+248delinsCT	XP_011534979.1:n.438+247_438+248delinsCT
XR_001750279.1:n.638+247_638+248delinsCT
XR_001750282.1:n.642+247_642+248delinsCT
XR_943416.3:n.639+247_639+248delinsCT
NM_013382.6:c.438+247_438+248delinsCT	NP_037514.2:n.438+247_438+248delinsCT
NM_013382.7:c.438+247_438+248delinsCT MANE Select	NP_037514.2:n.438+247_438+248delinsCT