Canonical Allele Identifier: CA2575587700

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298597_77298598del , CM000676.2:g.77298597_77298598del	GRCh38
NC_000014.8:g.77764940_77764941del , CM000676.1:g.77764940_77764941del	GRCh37
NC_000014.7:g.76834693_76834694del	NCBI36
NG_008897.1:g.27287_27288del , LRG_844:g.27287_27288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.547+93_547+94del	ENSP00000451967.2:n.547+93_547+94del
ENST00000557289.2:c.304+93_304+94del
ENST00000682247.1:c.1006+93_1006+94del	ENSP00000507213.1:n.1006+93_1006+94del
ENST00000682382.1:c.578+93_578+94del
ENST00000682395.1:n.735+93_735+94del
ENST00000682459.1:n.670+93_670+94del
ENST00000682467.1:c.1006+93_1006+94del	ENSP00000508062.1:n.1006+93_1006+94del
ENST00000682795.1:c.1006+93_1006+94del	ENSP00000507574.1:n.1006+93_1006+94del
ENST00000682895.1:n.722+93_722+94del
ENST00000682955.1:n.294+93_294+94del
ENST00000683188.1:c.532+93_532+94del
ENST00000683300.1:c.110-2323_110-2322del	ENSP00000507630.1:n.110-2323_110-2322del
ENST00000683328.1:c.109+6096_109+6097del	ENSP00000508096.1:n.109+6096_109+6097del
ENST00000683380.1:n.670+93_670+94del
ENST00000683828.1:c.715+93_715+94del
ENST00000684259.1:n.857+93_857+94del
ENST00000684549.1:n.557+93_557+94del
ENST00000684554.1:c.243+93_243+94del
ENST00000261534.9:c.1006+93_1006+94del MANE Select	ENSP00000261534.4:n.1006+93_1006+94del
ENST00000261534.8:c.1006+93_1006+94del	ENSP00000261534.4:n.1006+93_1006+94del
ENST00000452340.7:n.1029+93_1029+94del
ENST00000554767.5:n.1792+93_1792+94del
ENST00000557289.1:c.245+93_245+94del	ENSP00000451115.1:n.245+93_245+94del
NM_013382.5:c.1006+93_1006+94del , LRG_844t1:c.1006+93_1006+94del	NP_037514.2:n.1006+93_1006+94del
XM_011536675.1:c.1006+93_1006+94del	XP_011534977.1:n.1006+93_1006+94del
XM_011536676.1:c.673+93_673+94del	XP_011534978.1:n.673+93_673+94del
XM_011536677.1:c.548-2323_548-2322del	XP_011534979.1:n.548-2323_548-2322del
XM_011536678.1:c.1006+93_1006+94del	XP_011534980.1:n.1006+93_1006+94del
XM_011536679.1:c.100+93_100+94del	XP_011534981.1:n.100+93_100+94del
XM_011536680.1:c.1006+93_1006+94del	XP_011534982.1:n.1006+93_1006+94del
XR_943416.1:n.1209+93_1209+94del
XM_011536675.2:c.1006+93_1006+94del	XP_011534977.1:n.1006+93_1006+94del
XM_011536676.2:c.673+93_673+94del	XP_011534978.1:n.673+93_673+94del
XM_011536677.3:c.548-2323_548-2322del	XP_011534979.1:n.548-2323_548-2322del
XR_001750279.1:n.1206+93_1206+94del
XR_001750282.1:n.1210+93_1210+94del
XR_943416.3:n.1207+93_1207+94del
NM_013382.6:c.1006+93_1006+94del	NP_037514.2:n.1006+93_1006+94del
NM_013382.7:c.1006+93_1006+94del MANE Select	NP_037514.2:n.1006+93_1006+94del