Canonical Allele Identifier: CA2148328705

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306115_77306117delinsCTA , CM000676.2:g.77306115_77306117delinsCTA	GRCh38
NC_000014.8:g.77772458_77772460delinsCTA , CM000676.1:g.77772458_77772460delinsCTA	GRCh37
NC_000014.7:g.76842211_76842213delinsCTA	NCBI36
NG_008897.1:g.19766_19768delinsTAG , LRG_844:g.19766_19768delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.387_389delinsTAG
ENST00000556394.2:c.249-1317_249-1315delinsTAG	ENSP00000451967.2:n.249-1317_249-1315delinsTAG
ENST00000556880.6:n.462+129_462+131delinsTAG
ENST00000682247.1:c.438+220_438+222delinsTAG	ENSP00000507213.1:n.438+220_438+222delinsTAG
ENST00000682382.1:c.386+220_386+222delinsTAG
ENST00000682395.1:n.167+220_167+222delinsTAG
ENST00000682459.1:n.102+285_102+287delinsTAG
ENST00000682467.1:c.438+220_438+222delinsTAG	ENSP00000508062.1:n.438+220_438+222delinsTAG
ENST00000682795.1:c.438+220_438+222delinsTAG	ENSP00000507574.1:n.438+220_438+222delinsTAG
ENST00000682895.1:n.154+220_154+222delinsTAG
ENST00000682955.1:n.102+285_102+287delinsTAG
ENST00000683188.1:c.233+220_233+222delinsTAG
ENST00000683380.1:n.102+285_102+287delinsTAG
ENST00000683828.1:c.307+220_307+222delinsTAG
ENST00000684102.1:n.404_406delinsTAG
ENST00000684259.1:n.289+220_289+222delinsTAG
ENST00000684479.1:n.105+220_105+222delinsTAG
ENST00000684549.1:n.258+129_258+131delinsTAG
ENST00000684600.1:c.252+220_252+222delinsTAG
ENST00000684670.1:n.105+220_105+222delinsTAG
ENST00000261534.9:c.438+220_438+222delinsTAG MANE Select	ENSP00000261534.4:n.438+220_438+222delinsTAG
ENST00000261534.8:c.438+220_438+222delinsTAG	ENSP00000261534.4:n.438+220_438+222delinsTAG
ENST00000452340.7:n.461+220_461+222delinsTAG
ENST00000553863.5:n.102+285_102+287delinsTAG
ENST00000554948.1:c.165+220_165+222delinsTAG	ENSP00000452060.1:n.165+220_165+222delinsTAG
ENST00000555675.5:n.154+220_154+222delinsTAG
ENST00000555788.5:n.363+129_363+131delinsTAG
ENST00000556326.5:c.*104+220_*104+222delinsTAG	ENSP00000450630.1:n.*104+220_*104+222delinsTAG
ENST00000556880.5:n.462+129_462+131delinsTAG
ENST00000557525.1:n.528+220_528+222delinsTAG
NM_013382.5:c.438+220_438+222delinsTAG , LRG_844t1:c.438+220_438+222delinsTAG	NP_037514.2:n.438+220_438+222delinsTAG
XM_011536675.1:c.438+220_438+222delinsTAG	XP_011534977.1:n.438+220_438+222delinsTAG
XM_011536676.1:c.105+220_105+222delinsTAG	XP_011534978.1:n.105+220_105+222delinsTAG
XM_011536677.1:c.438+220_438+222delinsTAG	XP_011534979.1:n.438+220_438+222delinsTAG
XM_011536678.1:c.438+220_438+222delinsTAG	XP_011534980.1:n.438+220_438+222delinsTAG
XM_011536679.1:c.-200+129_-200+131delinsTAG	XP_011534981.1:n.-200+129_-200+131delinsTAG
XM_011536680.1:c.438+220_438+222delinsTAG	XP_011534982.1:n.438+220_438+222delinsTAG
XR_943416.1:n.641+220_641+222delinsTAG
XM_011536675.2:c.438+220_438+222delinsTAG	XP_011534977.1:n.438+220_438+222delinsTAG
XM_011536676.2:c.105+220_105+222delinsTAG	XP_011534978.1:n.105+220_105+222delinsTAG
XM_011536677.3:c.438+220_438+222delinsTAG	XP_011534979.1:n.438+220_438+222delinsTAG
XR_001750279.1:n.638+220_638+222delinsTAG
XR_001750282.1:n.642+220_642+222delinsTAG
XR_943416.3:n.639+220_639+222delinsTAG
NM_013382.6:c.438+220_438+222delinsTAG	NP_037514.2:n.438+220_438+222delinsTAG
NM_013382.7:c.438+220_438+222delinsTAG MANE Select	NP_037514.2:n.438+220_438+222delinsTAG