Canonical Allele Identifier: CA2544193782

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286547_77286548insA , CM000676.2:g.77286547_77286548insA	GRCh38
NC_000014.8:g.77752890_77752891insA , CM000676.1:g.77752890_77752891insA	GRCh37
NC_000014.7:g.76822643_76822644insA	NCBI36
NG_008897.1:g.39335_39336insT , LRG_844:g.39335_39336insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+196_873+197insT	ENSP00000451967.2:n.873+196_873+197insT
ENST00000682247.1:c.1332+196_1332+197insT	ENSP00000507213.1:n.1332+196_1332+197insT
ENST00000682382.1:c.904+196_904+197insT
ENST00000682395.1:n.1510+196_1510+197insT
ENST00000682459.1:n.1035+196_1035+197insT
ENST00000682467.1:c.1332+196_1332+197insT	ENSP00000508062.1:n.1332+196_1332+197insT
ENST00000682795.1:c.1332+196_1332+197insT	ENSP00000507574.1:n.1332+196_1332+197insT
ENST00000682895.1:n.1048+196_1048+197insT
ENST00000682955.1:n.620+196_620+197insT
ENST00000683188.1:c.1307+196_1307+197insT
ENST00000683380.1:n.996+196_996+197insT
ENST00000683828.1:c.1041+196_1041+197insT
ENST00000684259.1:n.1183+196_1183+197insT
ENST00000684444.1:c.83+192_83+193insT
ENST00000684549.1:n.883+196_883+197insT
ENST00000261534.9:c.1332+196_1332+197insT MANE Select	ENSP00000261534.4:n.1332+196_1332+197insT
ENST00000261534.8:c.1332+196_1332+197insT	ENSP00000261534.4:n.1332+196_1332+197insT
ENST00000452340.7:n.1355+196_1355+197insT
ENST00000553880.5:n.203+196_203+197insT
ENST00000554767.5:n.2118+196_2118+197insT
ENST00000554884.5:n.324+196_324+197insT
ENST00000556404.1:n.466+196_466+197insT
ENST00000557675.5:n.422+196_422+197insT
NM_013382.5:c.1332+196_1332+197insT , LRG_844t1:c.1332+196_1332+197insT	NP_037514.2:n.1332+196_1332+197insT
XM_011536675.1:c.1332+196_1332+197insT	XP_011534977.1:n.1332+196_1332+197insT
XM_011536676.1:c.999+196_999+197insT	XP_011534978.1:n.999+196_999+197insT
XM_011536677.1:c.873+196_873+197insT	XP_011534979.1:n.873+196_873+197insT
XM_011536678.1:c.1332+196_1332+197insT	XP_011534980.1:n.1332+196_1332+197insT
XM_011536679.1:c.426+196_426+197insT	XP_011534981.1:n.426+196_426+197insT
XR_943416.1:n.1535+196_1535+197insT
XM_011536675.2:c.1332+196_1332+197insT	XP_011534977.1:n.1332+196_1332+197insT
XM_011536676.2:c.999+196_999+197insT	XP_011534978.1:n.999+196_999+197insT
XM_011536677.3:c.873+196_873+197insT	XP_011534979.1:n.873+196_873+197insT
XR_001750279.1:n.1532+196_1532+197insT
XR_001750282.1:n.1985+196_1985+197insT
XR_943416.3:n.1533+196_1533+197insT
NM_013382.6:c.1332+196_1332+197insT	NP_037514.2:n.1332+196_1332+197insT
NM_013382.7:c.1332+196_1332+197insT MANE Select	NP_037514.2:n.1332+196_1332+197insT