Canonical Allele Identifier: CA2802240791

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278454_77278455del , CM000676.2:g.77278454_77278455del	GRCh38
NC_000014.8:g.77744797_77744798del , CM000676.1:g.77744797_77744798del	GRCh37
NC_000014.7:g.76814550_76814551del	NCBI36
NG_008897.1:g.47430_47431del , LRG_844:g.47430_47431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1013_1014del
ENST00000556394.2:c.1629_1630del	ENSP00000451967.2:p.Leu544GlyfsTer?
ENST00000682247.1:c.2077_2078del	ENSP00000507213.1:p.Pro693TrpfsTer11
ENST00000682395.1:n.2552_2553del
ENST00000682459.1:n.1791_1792del
ENST00000682467.1:c.1947_1948del	ENSP00000508062.1:p.Leu650GlyfsTer?
ENST00000682795.1:c.2235_2236del	ENSP00000507574.1:p.Leu746GlyfsTer?
ENST00000682895.1:n.1804_1805del
ENST00000682955.1:n.1662_1663del
ENST00000683188.1:c.2349_2350del
ENST00000683380.1:n.1752_1753del
ENST00000683907.1:c.353_354del	ENSP00000507754.1:n.353_354del
ENST00000684259.1:n.3855_3856del
ENST00000684538.1:n.1467_1468del
ENST00000684549.1:n.1639_1640del
ENST00000261534.9:c.2088_2089del MANE Select	ENSP00000261534.4:p.Leu697GlyfsTer?
ENST00000261534.8:c.2088_2089del	ENSP00000261534.4:p.Leu697GlyfsTer?
ENST00000452340.7:n.3064_3065del
ENST00000554767.5:n.2874_2875del
ENST00000555710.1:c.449_450del	ENSP00000451730.1:n.449_450del
ENST00000556394.1:c.143_144del
ENST00000556446.1:n.389_390del
ENST00000602717.5:c.303_304del	ENSP00000487704.1:p.Leu102GlyfsTer?
NM_013382.5:c.2088_2089del , LRG_844t1:c.2088_2089del	NP_037514.2:p.Leu697GlyfsTer?
XM_011536675.1:c.2277_2278del	XP_011534977.1:p.Leu760GlyfsTer?
XM_011536676.1:c.1944_1945del	XP_011534978.1:p.Leu649GlyfsTer?
XM_011536677.1:c.1818_1819del	XP_011534979.1:p.Leu607GlyfsTer?
XM_011536679.1:c.1371_1372del	XP_011534981.1:p.Leu458GlyfsTer?
XR_943416.1:n.2341_2342del
XM_011536675.2:c.2277_2278del	XP_011534977.1:p.Leu760GlyfsTer?
XM_011536676.2:c.1944_1945del	XP_011534978.1:p.Leu649GlyfsTer?
XM_011536677.3:c.1818_1819del	XP_011534979.1:p.Leu607GlyfsTer?
XR_001750279.1:n.2374_2375del
XR_001750282.1:n.3027_3028del
XR_943416.3:n.2339_2340del
NM_013382.6:c.2088_2089del	NP_037514.2:p.Leu697GlyfsTer?
NM_013382.7:c.2088_2089del MANE Select	NP_037514.2:p.Leu697GlyfsTer?