Canonical Allele Identifier: CA2148328654

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306046_77306049delinsGTTC , CM000676.2:g.77306046_77306049delinsGTTC	GRCh38
NC_000014.8:g.77772389_77772392delinsGTTC , CM000676.1:g.77772389_77772392delinsGTTC	GRCh37
NC_000014.7:g.76842142_76842145delinsGTTC	NCBI36
NG_008897.1:g.19834_19837delinsGAAC , LRG_844:g.19834_19837delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.455_458delinsGAAC
ENST00000556394.2:c.249-1249_249-1246delinsGAAC	ENSP00000451967.2:n.249-1249_249-1246delinsGAAC
ENST00000556880.6:n.462+197_462+200delinsGAAC
ENST00000682247.1:c.438+288_438+291delinsGAAC	ENSP00000507213.1:n.438+288_438+291delinsGAAC
ENST00000682382.1:c.386+288_386+291delinsGAAC
ENST00000682395.1:n.167+288_167+291delinsGAAC
ENST00000682459.1:n.102+353_102+356delinsGAAC
ENST00000682467.1:c.438+288_438+291delinsGAAC	ENSP00000508062.1:n.438+288_438+291delinsGAAC
ENST00000682795.1:c.438+288_438+291delinsGAAC	ENSP00000507574.1:n.438+288_438+291delinsGAAC
ENST00000682895.1:n.154+288_154+291delinsGAAC
ENST00000682955.1:n.102+353_102+356delinsGAAC
ENST00000683188.1:c.233+288_233+291delinsGAAC
ENST00000683380.1:n.102+353_102+356delinsGAAC
ENST00000683828.1:c.307+288_307+291delinsGAAC
ENST00000684102.1:n.472_475delinsGAAC
ENST00000684259.1:n.289+288_289+291delinsGAAC
ENST00000684479.1:n.106-189_106-186delinsGAAC
ENST00000684549.1:n.258+197_258+200delinsGAAC
ENST00000684600.1:c.252+288_252+291delinsGAAC
ENST00000684670.1:n.106-275_106-272delinsGAAC
ENST00000261534.9:c.438+288_438+291delinsGAAC MANE Select	ENSP00000261534.4:n.438+288_438+291delinsGAAC
ENST00000261534.8:c.438+288_438+291delinsGAAC	ENSP00000261534.4:n.438+288_438+291delinsGAAC
ENST00000452340.7:n.461+288_461+291delinsGAAC
ENST00000553863.5:n.102+353_102+356delinsGAAC
ENST00000554948.1:c.165+288_165+291delinsGAAC	ENSP00000452060.1:n.165+288_165+291delinsGAAC
ENST00000555675.5:n.154+288_154+291delinsGAAC
ENST00000555788.5:n.363+197_363+200delinsGAAC
ENST00000556326.5:c.*104+288_*104+291delinsGAAC	ENSP00000450630.1:n.*104+288_*104+291delinsGAAC
ENST00000556880.5:n.462+197_462+200delinsGAAC
ENST00000557525.1:n.528+288_528+291delinsGAAC
NM_013382.5:c.438+288_438+291delinsGAAC , LRG_844t1:c.438+288_438+291delinsGAAC	NP_037514.2:n.438+288_438+291delinsGAAC
XM_011536675.1:c.438+288_438+291delinsGAAC	XP_011534977.1:n.438+288_438+291delinsGAAC
XM_011536676.1:c.105+288_105+291delinsGAAC	XP_011534978.1:n.105+288_105+291delinsGAAC
XM_011536677.1:c.438+288_438+291delinsGAAC	XP_011534979.1:n.438+288_438+291delinsGAAC
XM_011536678.1:c.438+288_438+291delinsGAAC	XP_011534980.1:n.438+288_438+291delinsGAAC
XM_011536679.1:c.-200+197_-200+200delinsGAAC	XP_011534981.1:n.-200+197_-200+200delinsGAAC
XM_011536680.1:c.438+288_438+291delinsGAAC	XP_011534982.1:n.438+288_438+291delinsGAAC
XR_943416.1:n.641+288_641+291delinsGAAC
XM_011536675.2:c.438+288_438+291delinsGAAC	XP_011534977.1:n.438+288_438+291delinsGAAC
XM_011536676.2:c.105+288_105+291delinsGAAC	XP_011534978.1:n.105+288_105+291delinsGAAC
XM_011536677.3:c.438+288_438+291delinsGAAC	XP_011534979.1:n.438+288_438+291delinsGAAC
XR_001750279.1:n.638+288_638+291delinsGAAC
XR_001750282.1:n.642+288_642+291delinsGAAC
XR_943416.3:n.639+288_639+291delinsGAAC
NM_013382.6:c.438+288_438+291delinsGAAC	NP_037514.2:n.438+288_438+291delinsGAAC
NM_013382.7:c.438+288_438+291delinsGAAC MANE Select	NP_037514.2:n.438+288_438+291delinsGAAC