Canonical Allele Identifier: CA708718923

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77296229_77296235del , CM000676.2:g.77296229_77296235del	GRCh38
NC_000014.8:g.77762572_77762578del , CM000676.1:g.77762572_77762578del	GRCh37
NC_000014.7:g.76832325_76832331del	NCBI36
NG_008897.1:g.29649_29655del , LRG_844:g.29649_29655del

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1046_1052del MANE Select	NP_037514.2:p.Arg349ProfsTer?
ENST00000261534.9:c.1046_1052del MANE Select	ENSP00000261534.4:p.Arg349ProfsTer?
NM_013382.5:c.1046_1052del , LRG_844t1:c.1046_1052del	NP_037514.2:p.Arg349ProfsTer?
NM_013382.6:c.1046_1052del	NP_037514.2:p.Arg349ProfsTer?
ENST00000261534.8:c.1046_1052del	ENSP00000261534.4:p.Arg349ProfsTer?
ENST00000452340.7:n.1069_1075del
ENST00000554767.5:n.1832_1838del
ENST00000556394.2:c.587_593del	ENSP00000451967.2:p.Arg196ProfsTer?
ENST00000557289.1:c.285_291del	ENSP00000451115.1:n.285_291del
ENST00000557289.2:c.344_350del
ENST00000557675.5:n.136_142del
ENST00000682247.1:c.1046_1052del	ENSP00000507213.1:p.Arg349ProfsTer?
ENST00000682382.1:c.618_624del
ENST00000682395.1:n.775_781del
ENST00000682459.1:n.710_716del
ENST00000682467.1:c.1046_1052del	ENSP00000508062.1:p.Arg349ProfsTer?
ENST00000682795.1:c.1046_1052del	ENSP00000507574.1:p.Arg349ProfsTer?
ENST00000682895.1:n.762_768del
ENST00000682955.1:n.334_340del
ENST00000683188.1:c.572_578del
ENST00000683285.1:c.40_46del
ENST00000683300.1:c.149_155del	ENSP00000507630.1:p.Arg50ProfsTer?
ENST00000683328.1:c.110-4854_110-4848del	ENSP00000508096.1:n.110-4854_110-4848del
ENST00000683380.1:n.710_716del
ENST00000683721.1:n.70_76del
ENST00000683828.1:c.755_761del
ENST00000684259.1:n.897_903del
ENST00000684528.1:c.40_46del
ENST00000684549.1:n.597_603del
ENST00000684554.1:c.283_289del
XM_011536675.1:c.1046_1052del	XP_011534977.1:p.Arg349ProfsTer?
XM_011536675.2:c.1046_1052del	XP_011534977.1:p.Arg349ProfsTer?
XM_011536676.1:c.713_719del	XP_011534978.1:p.Arg238ProfsTer?
XM_011536676.2:c.713_719del	XP_011534978.1:p.Arg238ProfsTer?
XM_011536677.1:c.587_593del	XP_011534979.1:p.Arg196ProfsTer?
XM_011536677.3:c.587_593del	XP_011534979.1:p.Arg196ProfsTer?
XM_011536678.1:c.1046_1052del	XP_011534980.1:p.Arg349ProfsTer?
XM_011536679.1:c.140_146del	XP_011534981.1:p.Arg47ProfsTer?
XM_011536680.1:c.1046_1052del	XP_011534982.1:p.Arg349ProfsTer?
XR_001750279.1:n.1246_1252del
XR_001750282.1:n.1250_1256del
XR_943416.1:n.1249_1255del
XR_943416.3:n.1247_1253del