Canonical Allele Identifier: CA2148329962

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286613_77286615delinsAAG , CM000676.2:g.77286613_77286615delinsAAG	GRCh38
NC_000014.8:g.77752956_77752958delinsAAG , CM000676.1:g.77752956_77752958delinsAAG	GRCh37
NC_000014.7:g.76822709_76822711delinsAAG	NCBI36
NG_008897.1:g.39268_39270delinsCTT , LRG_844:g.39268_39270delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+129_873+131delinsCTT	ENSP00000451967.2:n.873+129_873+131delinsCTT
ENST00000682247.1:c.1332+129_1332+131delinsCTT	ENSP00000507213.1:n.1332+129_1332+131delinsCTT
ENST00000682382.1:c.904+129_904+131delinsCTT
ENST00000682395.1:n.1510+129_1510+131delinsCTT
ENST00000682459.1:n.1035+129_1035+131delinsCTT
ENST00000682467.1:c.1332+129_1332+131delinsCTT	ENSP00000508062.1:n.1332+129_1332+131delinsCTT
ENST00000682795.1:c.1332+129_1332+131delinsCTT	ENSP00000507574.1:n.1332+129_1332+131delinsCTT
ENST00000682895.1:n.1048+129_1048+131delinsCTT
ENST00000682955.1:n.620+129_620+131delinsCTT
ENST00000683188.1:c.1307+129_1307+131delinsCTT
ENST00000683380.1:n.996+129_996+131delinsCTT
ENST00000683828.1:c.1041+129_1041+131delinsCTT
ENST00000684259.1:n.1183+129_1183+131delinsCTT
ENST00000684444.1:c.83+125_83+127delinsCTT
ENST00000684549.1:n.883+129_883+131delinsCTT
ENST00000261534.9:c.1332+129_1332+131delinsCTT MANE Select	ENSP00000261534.4:n.1332+129_1332+131delinsCTT
ENST00000261534.8:c.1332+129_1332+131delinsCTT	ENSP00000261534.4:n.1332+129_1332+131delinsCTT
ENST00000452340.7:n.1355+129_1355+131delinsCTT
ENST00000553880.5:n.203+129_203+131delinsCTT
ENST00000554767.5:n.2118+129_2118+131delinsCTT
ENST00000554884.5:n.324+129_324+131delinsCTT
ENST00000556404.1:n.466+129_466+131delinsCTT
ENST00000557675.5:n.422+129_422+131delinsCTT
NM_013382.5:c.1332+129_1332+131delinsCTT , LRG_844t1:c.1332+129_1332+131delinsCTT	NP_037514.2:n.1332+129_1332+131delinsCTT
XM_011536675.1:c.1332+129_1332+131delinsCTT	XP_011534977.1:n.1332+129_1332+131delinsCTT
XM_011536676.1:c.999+129_999+131delinsCTT	XP_011534978.1:n.999+129_999+131delinsCTT
XM_011536677.1:c.873+129_873+131delinsCTT	XP_011534979.1:n.873+129_873+131delinsCTT
XM_011536678.1:c.1332+129_1332+131delinsCTT	XP_011534980.1:n.1332+129_1332+131delinsCTT
XM_011536679.1:c.426+129_426+131delinsCTT	XP_011534981.1:n.426+129_426+131delinsCTT
XR_943416.1:n.1535+129_1535+131delinsCTT
XM_011536675.2:c.1332+129_1332+131delinsCTT	XP_011534977.1:n.1332+129_1332+131delinsCTT
XM_011536676.2:c.999+129_999+131delinsCTT	XP_011534978.1:n.999+129_999+131delinsCTT
XM_011536677.3:c.873+129_873+131delinsCTT	XP_011534979.1:n.873+129_873+131delinsCTT
XR_001750279.1:n.1532+129_1532+131delinsCTT
XR_001750282.1:n.1985+129_1985+131delinsCTT
XR_943416.3:n.1533+129_1533+131delinsCTT
NM_013382.6:c.1332+129_1332+131delinsCTT	NP_037514.2:n.1332+129_1332+131delinsCTT
NM_013382.7:c.1332+129_1332+131delinsCTT MANE Select	NP_037514.2:n.1332+129_1332+131delinsCTT