Canonical Allele Identifier: CA2575587555

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278839_77278840del , CM000676.2:g.77278839_77278840del	GRCh38
NC_000014.8:g.77745182_77745183del , CM000676.1:g.77745182_77745183del	GRCh37
NC_000014.7:g.76814935_76814936del	NCBI36
NG_008897.1:g.47043_47044del , LRG_844:g.47043_47044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.846_847del
ENST00000556394.2:c.1462_1463del	ENSP00000451967.2:p.Gly488ProfsTer?
ENST00000682128.1:c.222_223del	ENSP00000506976.1:n.222_223del
ENST00000682247.1:c.1910_1911del	ENSP00000507213.1:p.Arg637ProfsTer16
ENST00000682395.1:n.2385_2386del
ENST00000682459.1:n.1624_1625del
ENST00000682467.1:c.1892-332_1892-331del	ENSP00000508062.1:n.1892-332_1892-331del
ENST00000682615.1:n.275_276del
ENST00000682795.1:c.2068_2069del	ENSP00000507574.1:p.Gly690ProfsTer?
ENST00000682895.1:n.1637_1638del
ENST00000682955.1:n.1495_1496del
ENST00000683095.1:c.327_328del	ENSP00000508040.1:n.327_328del
ENST00000683188.1:c.2182_2183del
ENST00000683380.1:n.1585_1586del
ENST00000683828.1:c.1630_1631del
ENST00000683907.1:c.186_187del	ENSP00000507754.1:p.Ala63GlnfsTer?
ENST00000684172.1:c.297_298del	ENSP00000508391.1:n.297_298del
ENST00000684259.1:n.3688_3689del
ENST00000684538.1:n.1300_1301del
ENST00000684549.1:n.1472_1473del
ENST00000261534.9:c.1921_1922del MANE Select	ENSP00000261534.4:p.Gly641ProfsTer?
ENST00000261534.8:c.1921_1922del	ENSP00000261534.4:p.Gly641ProfsTer?
ENST00000452340.7:n.2897_2898del
ENST00000554767.5:n.2707_2708del
ENST00000555134.1:n.846_847del
ENST00000555710.1:c.282_283del	ENSP00000451730.1:n.282_283del
ENST00000556171.1:c.513_514del
ENST00000556394.1:c.88-332_88-331del
ENST00000556446.1:n.222_223del
ENST00000602717.5:c.136_137del	ENSP00000487704.1:p.Gly46ProfsTer?
NM_013382.5:c.1921_1922del , LRG_844t1:c.1921_1922del	NP_037514.2:p.Gly641ProfsTer?
XM_011536675.1:c.2110_2111del	XP_011534977.1:p.Gly704ProfsTer?
XM_011536676.1:c.1777_1778del	XP_011534978.1:p.Gly593ProfsTer?
XM_011536677.1:c.1651_1652del	XP_011534979.1:p.Gly551ProfsTer?
XM_011536679.1:c.1204_1205del	XP_011534981.1:p.Gly402ProfsTer?
XR_943416.1:n.2174_2175del
XM_011536675.2:c.2110_2111del	XP_011534977.1:p.Gly704ProfsTer?
XM_011536676.2:c.1777_1778del	XP_011534978.1:p.Gly593ProfsTer?
XM_011536677.3:c.1651_1652del	XP_011534979.1:p.Gly551ProfsTer?
XR_001750279.1:n.2207_2208del
XR_001750282.1:n.2860_2861del
XR_943416.3:n.2172_2173del
NM_013382.6:c.1921_1922del	NP_037514.2:p.Gly641ProfsTer?
NM_013382.7:c.1921_1922del MANE Select	NP_037514.2:p.Gly641ProfsTer?