Canonical Allele Identifier: CA2625847526

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306126-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306128_77306129del , CM000676.2:g.77306128_77306129del	GRCh38
NC_000014.8:g.77772471_77772472del , CM000676.1:g.77772471_77772472del	GRCh37
NC_000014.7:g.76842224_76842225del	NCBI36
NG_008897.1:g.19755_19756del , LRG_844:g.19755_19756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.376_377del
ENST00000556394.2:c.249-1328_249-1327del	ENSP00000451967.2:n.249-1328_249-1327del
ENST00000556880.6:n.462+118_462+119del
ENST00000682247.1:c.438+209_438+210del	ENSP00000507213.1:n.438+209_438+210del
ENST00000682382.1:c.386+209_386+210del
ENST00000682395.1:n.167+209_167+210del
ENST00000682459.1:n.102+274_102+275del
ENST00000682467.1:c.438+209_438+210del	ENSP00000508062.1:n.438+209_438+210del
ENST00000682795.1:c.438+209_438+210del	ENSP00000507574.1:n.438+209_438+210del
ENST00000682895.1:n.154+209_154+210del
ENST00000682955.1:n.102+274_102+275del
ENST00000683188.1:c.233+209_233+210del
ENST00000683380.1:n.102+274_102+275del
ENST00000683828.1:c.307+209_307+210del
ENST00000684102.1:n.393_394del
ENST00000684259.1:n.289+209_289+210del
ENST00000684479.1:n.105+209_105+210del
ENST00000684549.1:n.258+118_258+119del
ENST00000684600.1:c.252+209_252+210del
ENST00000684670.1:n.105+209_105+210del
ENST00000261534.9:c.438+209_438+210del MANE Select	ENSP00000261534.4:n.438+209_438+210del
ENST00000261534.8:c.438+209_438+210del	ENSP00000261534.4:n.438+209_438+210del
ENST00000452340.7:n.461+209_461+210del
ENST00000553863.5:n.102+274_102+275del
ENST00000554948.1:c.165+209_165+210del	ENSP00000452060.1:n.165+209_165+210del
ENST00000555675.5:n.154+209_154+210del
ENST00000555788.5:n.363+118_363+119del
ENST00000556326.5:c.*104+209_*104+210del	ENSP00000450630.1:n.*104+209_*104+210del
ENST00000556880.5:n.462+118_462+119del
ENST00000557525.1:n.528+209_528+210del
NM_013382.5:c.438+209_438+210del , LRG_844t1:c.438+209_438+210del	NP_037514.2:n.438+209_438+210del
XM_011536675.1:c.438+209_438+210del	XP_011534977.1:n.438+209_438+210del
XM_011536676.1:c.105+209_105+210del	XP_011534978.1:n.105+209_105+210del
XM_011536677.1:c.438+209_438+210del	XP_011534979.1:n.438+209_438+210del
XM_011536678.1:c.438+209_438+210del	XP_011534980.1:n.438+209_438+210del
XM_011536679.1:c.-200+118_-200+119del	XP_011534981.1:n.-200+118_-200+119del
XM_011536680.1:c.438+209_438+210del	XP_011534982.1:n.438+209_438+210del
XR_943416.1:n.641+209_641+210del
XM_011536675.2:c.438+209_438+210del	XP_011534977.1:n.438+209_438+210del
XM_011536676.2:c.105+209_105+210del	XP_011534978.1:n.105+209_105+210del
XM_011536677.3:c.438+209_438+210del	XP_011534979.1:n.438+209_438+210del
XR_001750279.1:n.638+209_638+210del
XR_001750282.1:n.642+209_642+210del
XR_943416.3:n.639+209_639+210del
NM_013382.6:c.438+209_438+210del	NP_037514.2:n.438+209_438+210del
NM_013382.7:c.438+209_438+210del MANE Select	NP_037514.2:n.438+209_438+210del