Canonical Allele Identifier: CA2148340628

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298687_77298688delinsAC , CM000676.2:g.77298687_77298688delinsAC	GRCh38
NC_000014.8:g.77765030_77765031delinsAC , CM000676.1:g.77765030_77765031delinsAC	GRCh37
NC_000014.7:g.76834783_76834784delinsAC	NCBI36
NG_008897.1:g.27195_27196delinsGT , LRG_844:g.27195_27196delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.547+1_547+2delinsGT	ENSP00000451967.2:n.547+1_547+2delinsGT
ENST00000557289.2:c.304+1_304+2delinsGT
ENST00000682247.1:c.1006+1_1006+2delinsGT	ENSP00000507213.1:n.1006+1_1006+2delinsGT
ENST00000682382.1:c.578+1_578+2delinsGT
ENST00000682395.1:n.735+1_735+2delinsGT
ENST00000682459.1:n.670+1_670+2delinsGT
ENST00000682467.1:c.1006+1_1006+2delinsGT	ENSP00000508062.1:n.1006+1_1006+2delinsGT
ENST00000682795.1:c.1006+1_1006+2delinsGT	ENSP00000507574.1:n.1006+1_1006+2delinsGT
ENST00000682895.1:n.722+1_722+2delinsGT
ENST00000682955.1:n.294+1_294+2delinsGT
ENST00000683188.1:c.532+1_532+2delinsGT
ENST00000683300.1:c.110-2415_110-2414delinsGT	ENSP00000507630.1:n.110-2415_110-2414delinsGT
ENST00000683328.1:c.109+6004_109+6005delinsGT	ENSP00000508096.1:n.109+6004_109+6005delinsGT
ENST00000683380.1:n.670+1_670+2delinsGT
ENST00000683828.1:c.715+1_715+2delinsGT
ENST00000684259.1:n.857+1_857+2delinsGT
ENST00000684549.1:n.557+1_557+2delinsGT
ENST00000684554.1:c.243+1_243+2delinsGT
ENST00000261534.9:c.1006+1_1006+2delinsGT MANE Select	ENSP00000261534.4:n.1006+1_1006+2delinsGT
ENST00000261534.8:c.1006+1_1006+2delinsGT	ENSP00000261534.4:n.1006+1_1006+2delinsGT
ENST00000452340.7:n.1029+1_1029+2delinsGT
ENST00000554767.5:n.1792+1_1792+2delinsGT
ENST00000557289.1:c.245+1_245+2delinsGT	ENSP00000451115.1:n.245+1_245+2delinsGT
NM_013382.5:c.1006+1_1006+2delinsGT , LRG_844t1:c.1006+1_1006+2delinsGT	NP_037514.2:n.1006+1_1006+2delinsGT
XM_011536675.1:c.1006+1_1006+2delinsGT	XP_011534977.1:n.1006+1_1006+2delinsGT
XM_011536676.1:c.673+1_673+2delinsGT	XP_011534978.1:n.673+1_673+2delinsGT
XM_011536677.1:c.548-2415_548-2414delinsGT	XP_011534979.1:n.548-2415_548-2414delinsGT
XM_011536678.1:c.1006+1_1006+2delinsGT	XP_011534980.1:n.1006+1_1006+2delinsGT
XM_011536679.1:c.100+1_100+2delinsGT	XP_011534981.1:n.100+1_100+2delinsGT
XM_011536680.1:c.1006+1_1006+2delinsGT	XP_011534982.1:n.1006+1_1006+2delinsGT
XR_943416.1:n.1209+1_1209+2delinsGT
XM_011536675.2:c.1006+1_1006+2delinsGT	XP_011534977.1:n.1006+1_1006+2delinsGT
XM_011536676.2:c.673+1_673+2delinsGT	XP_011534978.1:n.673+1_673+2delinsGT
XM_011536677.3:c.548-2415_548-2414delinsGT	XP_011534979.1:n.548-2415_548-2414delinsGT
XR_001750279.1:n.1206+1_1206+2delinsGT
XR_001750282.1:n.1210+1_1210+2delinsGT
XR_943416.3:n.1207+1_1207+2delinsGT
NM_013382.6:c.1006+1_1006+2delinsGT	NP_037514.2:n.1006+1_1006+2delinsGT
NM_013382.7:c.1006+1_1006+2delinsGT MANE Select	NP_037514.2:n.1006+1_1006+2delinsGT