Canonical Allele Identifier: CA2148327559

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278623_77278672delinsCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA , CM000676.2:g.77278623_77278672delinsCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA	GRCh38
NC_000014.8:g.77744966_77745015delinsCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA , CM000676.1:g.77744966_77745015delinsCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA	GRCh37
NC_000014.7:g.76814719_76814768delinsCACAGTGGCCTCCCGTCAAGGAGCAGAGTCACTCCCAGCACTGCTGCCCA	NCBI36
NG_008897.1:g.47211_47260delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG , LRG_844:g.47211_47260delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+57_957+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000556394.2:c.1573+57_1573+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000451967.2:n.1573+57_1573+106delinsTGGGCAGCAGTGCTGGGAG...
ENST00000682247.1:c.2021+57_2021+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000507213.1:n.2021+57_2021+106delinsTGGGCAGCAGTGCTGGGAG...
ENST00000682395.1:n.2496+57_2496+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000682459.1:n.1735+57_1735+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000682467.1:c.1892-164_1892-115delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000508062.1:n.1892-164_1892-115delinsTGGGCAGCAGTGCTGGGA...
ENST00000682795.1:c.2179+57_2179+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000507574.1:n.2179+57_2179+106delinsTGGGCAGCAGTGCTGGGAG...
ENST00000682895.1:n.1748+57_1748+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000682955.1:n.1606+57_1606+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000683188.1:c.2293+57_2293+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000683380.1:n.1696+57_1696+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000683907.1:c.297+57_297+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000507754.1:n.297+57_297+106delinsTGGGCAGCAGTGCTGGGAGTG...
ENST00000684259.1:n.3799+57_3799+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000684538.1:n.1411+57_1411+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000684549.1:n.1583+57_1583+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000261534.9:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG MANE Select	ENSP00000261534.4:n.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAG...
ENST00000261534.8:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000261534.4:n.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAG...
ENST00000452340.7:n.3008+57_3008+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000554767.5:n.2818+57_2818+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000555710.1:c.393+57_393+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000451730.1:n.393+57_393+106delinsTGGGCAGCAGTGCTGGGAGTG...
ENST00000556394.1:c.88-164_88-115delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000556446.1:n.333+57_333+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
ENST00000602717.5:c.247+57_247+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	ENSP00000487704.1:n.247+57_247+106delinsTGGGCAGCAGTGCTGGGAGTG...
NM_013382.5:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG , LRG_844t1:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	NP_037514.2:n.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTC...
XM_011536675.1:c.2221+57_2221+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534977.1:n.2221+57_2221+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XM_011536676.1:c.1888+57_1888+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534978.1:n.1888+57_1888+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XM_011536677.1:c.1762+57_1762+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534979.1:n.1762+57_1762+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XM_011536679.1:c.1315+57_1315+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534981.1:n.1315+57_1315+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XR_943416.1:n.2285+57_2285+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
XM_011536675.2:c.2221+57_2221+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534977.1:n.2221+57_2221+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XM_011536676.2:c.1888+57_1888+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534978.1:n.1888+57_1888+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XM_011536677.3:c.1762+57_1762+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	XP_011534979.1:n.1762+57_1762+106delinsTGGGCAGCAGTGCTGGGAGTGA...
XR_001750279.1:n.2318+57_2318+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
XR_001750282.1:n.2971+57_2971+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
XR_943416.3:n.2283+57_2283+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG
NM_013382.6:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG	NP_037514.2:n.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTC...
NM_013382.7:c.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTCTGCTCCTTGACGGGAGGCCACTGTG MANE Select	NP_037514.2:n.2032+57_2032+106delinsTGGGCAGCAGTGCTGGGAGTGACTC...