Canonical Allele Identifier: CA2148328738

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306165_77306166delinsTC , CM000676.2:g.77306165_77306166delinsTC	GRCh38
NC_000014.8:g.77772508_77772509delinsTC , CM000676.1:g.77772508_77772509delinsTC	GRCh37
NC_000014.7:g.76842261_76842262delinsTC	NCBI36
NG_008897.1:g.19717_19718delinsGA , LRG_844:g.19717_19718delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.338_339delinsGA
ENST00000556394.2:c.249-1366_249-1365delinsGA	ENSP00000451967.2:n.249-1366_249-1365delinsGA
ENST00000556880.6:n.462+80_462+81delinsGA
ENST00000682247.1:c.438+171_438+172delinsGA	ENSP00000507213.1:n.438+171_438+172delinsGA
ENST00000682382.1:c.386+171_386+172delinsGA
ENST00000682395.1:n.167+171_167+172delinsGA
ENST00000682459.1:n.102+236_102+237delinsGA
ENST00000682467.1:c.438+171_438+172delinsGA	ENSP00000508062.1:n.438+171_438+172delinsGA
ENST00000682795.1:c.438+171_438+172delinsGA	ENSP00000507574.1:n.438+171_438+172delinsGA
ENST00000682895.1:n.154+171_154+172delinsGA
ENST00000682955.1:n.102+236_102+237delinsGA
ENST00000683188.1:c.233+171_233+172delinsGA
ENST00000683380.1:n.102+236_102+237delinsGA
ENST00000683828.1:c.307+171_307+172delinsGA
ENST00000684102.1:n.355_356delinsGA
ENST00000684259.1:n.289+171_289+172delinsGA
ENST00000684479.1:n.105+171_105+172delinsGA
ENST00000684549.1:n.258+80_258+81delinsGA
ENST00000684600.1:c.252+171_252+172delinsGA
ENST00000684670.1:n.105+171_105+172delinsGA
ENST00000261534.9:c.438+171_438+172delinsGA MANE Select	ENSP00000261534.4:n.438+171_438+172delinsGA
ENST00000261534.8:c.438+171_438+172delinsGA	ENSP00000261534.4:n.438+171_438+172delinsGA
ENST00000452340.7:n.461+171_461+172delinsGA
ENST00000553863.5:n.102+236_102+237delinsGA
ENST00000554948.1:c.165+171_165+172delinsGA	ENSP00000452060.1:n.165+171_165+172delinsGA
ENST00000555675.5:n.154+171_154+172delinsGA
ENST00000555788.5:n.363+80_363+81delinsGA
ENST00000556326.5:c.*104+171_*104+172delinsGA	ENSP00000450630.1:n.*104+171_*104+172delinsGA
ENST00000556880.5:n.462+80_462+81delinsGA
ENST00000557525.1:n.528+171_528+172delinsGA
NM_013382.5:c.438+171_438+172delinsGA , LRG_844t1:c.438+171_438+172delinsGA	NP_037514.2:n.438+171_438+172delinsGA
XM_011536675.1:c.438+171_438+172delinsGA	XP_011534977.1:n.438+171_438+172delinsGA
XM_011536676.1:c.105+171_105+172delinsGA	XP_011534978.1:n.105+171_105+172delinsGA
XM_011536677.1:c.438+171_438+172delinsGA	XP_011534979.1:n.438+171_438+172delinsGA
XM_011536678.1:c.438+171_438+172delinsGA	XP_011534980.1:n.438+171_438+172delinsGA
XM_011536679.1:c.-200+80_-200+81delinsGA	XP_011534981.1:n.-200+80_-200+81delinsGA
XM_011536680.1:c.438+171_438+172delinsGA	XP_011534982.1:n.438+171_438+172delinsGA
XR_943416.1:n.641+171_641+172delinsGA
XM_011536675.2:c.438+171_438+172delinsGA	XP_011534977.1:n.438+171_438+172delinsGA
XM_011536676.2:c.105+171_105+172delinsGA	XP_011534978.1:n.105+171_105+172delinsGA
XM_011536677.3:c.438+171_438+172delinsGA	XP_011534979.1:n.438+171_438+172delinsGA
XR_001750279.1:n.638+171_638+172delinsGA
XR_001750282.1:n.642+171_642+172delinsGA
XR_943416.3:n.639+171_639+172delinsGA
NM_013382.6:c.438+171_438+172delinsGA	NP_037514.2:n.438+171_438+172delinsGA
NM_013382.7:c.438+171_438+172delinsGA MANE Select	NP_037514.2:n.438+171_438+172delinsGA