Canonical Allele Identifier: CA2802241586

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301072_77301085del , CM000676.2:g.77301072_77301085del	GRCh38
NC_000014.8:g.77767415_77767428del , CM000676.1:g.77767415_77767428del	GRCh37
NC_000014.7:g.76837168_76837181del	NCBI36
NG_008897.1:g.24800_24813del , LRG_844:g.24800_24813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+7_269+20del	ENSP00000508202.1:n.269+7_269+20del
ENST00000556394.2:c.358-1522_358-1509del	ENSP00000451967.2:n.358-1522_358-1509del
ENST00000557289.2:c.160+7_160+20del
ENST00000682247.1:c.816+7_816+20del	ENSP00000507213.1:n.816+7_816+20del
ENST00000682382.1:c.496-2312_496-2299del
ENST00000682395.1:n.545+7_545+20del
ENST00000682459.1:n.480+7_480+20del
ENST00000682467.1:c.816+7_816+20del	ENSP00000508062.1:n.816+7_816+20del
ENST00000682795.1:c.816+7_816+20del	ENSP00000507574.1:n.816+7_816+20del
ENST00000682895.1:n.532+7_532+20del
ENST00000682955.1:n.212-2312_212-2299del
ENST00000683167.1:c.160+7_160+20del
ENST00000683188.1:c.343-1522_343-1509del
ENST00000683300.1:c.109+3609_109+3622del	ENSP00000507630.1:n.109+3609_109+3622del
ENST00000683328.1:c.109+3609_109+3622del	ENSP00000508096.1:n.109+3609_109+3622del
ENST00000683380.1:n.480+7_480+20del
ENST00000683398.1:c.160+7_160+20del
ENST00000683551.1:c.109+1752_109+1765del
ENST00000683828.1:c.526-1522_526-1509del
ENST00000684259.1:n.667+7_667+20del
ENST00000684549.1:n.368-1522_368-1509del
ENST00000684554.1:c.160+7_160+20del
ENST00000261534.9:c.816+7_816+20del MANE Select	ENSP00000261534.4:n.816+7_816+20del
ENST00000261534.8:c.816+7_816+20del	ENSP00000261534.4:n.816+7_816+20del
ENST00000452340.7:n.839+7_839+20del
ENST00000553863.5:n.480+7_480+20del
ENST00000554767.5:n.81_94del
ENST00000556326.5:c.*482+7_*482+20del	ENSP00000450630.1:n.*482+7_*482+20del
ENST00000557289.1:c.56-1522_56-1509del	ENSP00000451115.1:n.56-1522_56-1509del
NM_013382.5:c.816+7_816+20del , LRG_844t1:c.816+7_816+20del	NP_037514.2:n.816+7_816+20del
XM_011536675.1:c.816+7_816+20del	XP_011534977.1:n.816+7_816+20del
XM_011536676.1:c.483+7_483+20del	XP_011534978.1:n.483+7_483+20del
XM_011536677.1:c.547+3609_547+3622del	XP_011534979.1:n.547+3609_547+3622del
XM_011536678.1:c.816+7_816+20del	XP_011534980.1:n.816+7_816+20del
XM_011536679.1:c.-90-1522_-90-1509del	XP_011534981.1:n.-90-1522_-90-1509del
XM_011536680.1:c.816+7_816+20del	XP_011534982.1:n.816+7_816+20del
XR_943416.1:n.1019+7_1019+20del
XM_011536675.2:c.816+7_816+20del	XP_011534977.1:n.816+7_816+20del
XM_011536676.2:c.483+7_483+20del	XP_011534978.1:n.483+7_483+20del
XM_011536677.3:c.547+3609_547+3622del	XP_011534979.1:n.547+3609_547+3622del
XR_001750279.1:n.1016+7_1016+20del
XR_001750282.1:n.1020+7_1020+20del
XR_943416.3:n.1017+7_1017+20del
NM_013382.6:c.816+7_816+20del	NP_037514.2:n.816+7_816+20del
NM_013382.7:c.816+7_816+20del MANE Select	NP_037514.2:n.816+7_816+20del