Canonical Allele Identifier: CA2575587529

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278485_77278486del , CM000676.2:g.77278485_77278486del	GRCh38
NC_000014.8:g.77744828_77744829del , CM000676.1:g.77744828_77744829del	GRCh37
NC_000014.7:g.76814581_76814582del	NCBI36
NG_008897.1:g.47398_47399del , LRG_844:g.47398_47399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.981_982del
ENST00000556394.2:c.1597_1598del	ENSP00000451967.2:p.Arg533AlafsTer?
ENST00000682247.1:c.2045_2046del	ENSP00000507213.1:p.Ala682GlyfsTer22
ENST00000682395.1:n.2520_2521del
ENST00000682459.1:n.1759_1760del
ENST00000682467.1:c.1915_1916del	ENSP00000508062.1:p.Arg639AlafsTer?
ENST00000682795.1:c.2203_2204del	ENSP00000507574.1:p.Arg735AlafsTer?
ENST00000682895.1:n.1772_1773del
ENST00000682955.1:n.1630_1631del
ENST00000683188.1:c.2317_2318del
ENST00000683380.1:n.1720_1721del
ENST00000683907.1:c.321_322del	ENSP00000507754.1:n.321_322del
ENST00000684259.1:n.3823_3824del
ENST00000684538.1:n.1435_1436del
ENST00000684549.1:n.1607_1608del
ENST00000261534.9:c.2056_2057del MANE Select	ENSP00000261534.4:p.Arg686AlafsTer?
ENST00000261534.8:c.2056_2057del	ENSP00000261534.4:p.Arg686AlafsTer?
ENST00000452340.7:n.3032_3033del
ENST00000554767.5:n.2842_2843del
ENST00000555710.1:c.417_418del	ENSP00000451730.1:n.417_418del
ENST00000556394.1:c.111_112del
ENST00000556446.1:n.357_358del
ENST00000602717.5:c.271_272del	ENSP00000487704.1:p.Arg91AlafsTer?
NM_013382.5:c.2056_2057del , LRG_844t1:c.2056_2057del	NP_037514.2:p.Arg686AlafsTer?
XM_011536675.1:c.2245_2246del	XP_011534977.1:p.Arg749AlafsTer?
XM_011536676.1:c.1912_1913del	XP_011534978.1:p.Arg638AlafsTer?
XM_011536677.1:c.1786_1787del	XP_011534979.1:p.Arg596AlafsTer?
XM_011536679.1:c.1339_1340del	XP_011534981.1:p.Arg447AlafsTer?
XR_943416.1:n.2309_2310del
XM_011536675.2:c.2245_2246del	XP_011534977.1:p.Arg749AlafsTer?
XM_011536676.2:c.1912_1913del	XP_011534978.1:p.Arg638AlafsTer?
XM_011536677.3:c.1786_1787del	XP_011534979.1:p.Arg596AlafsTer?
XR_001750279.1:n.2342_2343del
XR_001750282.1:n.2995_2996del
XR_943416.3:n.2307_2308del
NM_013382.6:c.2056_2057del	NP_037514.2:p.Arg686AlafsTer?
NM_013382.7:c.2056_2057del MANE Select	NP_037514.2:p.Arg686AlafsTer?