Canonical Allele Identifier: CA2575587525

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278450del , CM000676.2:g.77278450del	GRCh38
NC_000014.8:g.77744793del , CM000676.1:g.77744793del	GRCh37
NC_000014.7:g.76814546del	NCBI36
NG_008897.1:g.47434del , LRG_844:g.47434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1017del
ENST00000556394.2:c.1633del	ENSP00000451967.2:p.Ala545ArgfsTer10
ENST00000682247.1:c.2081del	ENSP00000507213.1:p.Gly694AlafsTer?
ENST00000682395.1:n.2556del
ENST00000682459.1:n.1795del
ENST00000682467.1:c.1951del	ENSP00000508062.1:p.Ala651ArgfsTer10
ENST00000682795.1:c.2239del	ENSP00000507574.1:p.Ala747ArgfsTer10
ENST00000682895.1:n.1808del
ENST00000682955.1:n.1666del
ENST00000683188.1:c.2353del
ENST00000683380.1:n.1756del
ENST00000683907.1:c.357del	ENSP00000507754.1:n.357del
ENST00000684259.1:n.3859del
ENST00000684538.1:n.1471del
ENST00000684549.1:n.1643del
ENST00000261534.9:c.2092del MANE Select	ENSP00000261534.4:p.Ala698ArgfsTer10
ENST00000261534.8:c.2092del	ENSP00000261534.4:p.Ala698ArgfsTer10
ENST00000452340.7:n.3068del
ENST00000554767.5:n.2878del
ENST00000555710.1:c.453del	ENSP00000451730.1:n.453del
ENST00000556394.1:c.147del
ENST00000556446.1:n.393del
ENST00000602717.5:c.307del	ENSP00000487704.1:p.Ala103ArgfsTer10
NM_013382.5:c.2092del , LRG_844t1:c.2092del	NP_037514.2:p.Ala698ArgfsTer10
XM_011536675.1:c.2281del	XP_011534977.1:p.Ala761ArgfsTer10
XM_011536676.1:c.1948del	XP_011534978.1:p.Ala650ArgfsTer10
XM_011536677.1:c.1822del	XP_011534979.1:p.Ala608ArgfsTer10
XM_011536679.1:c.1375del	XP_011534981.1:p.Ala459ArgfsTer10
XR_943416.1:n.2345del
XM_011536675.2:c.2281del	XP_011534977.1:p.Ala761ArgfsTer10
XM_011536676.2:c.1948del	XP_011534978.1:p.Ala650ArgfsTer10
XM_011536677.3:c.1822del	XP_011534979.1:p.Ala608ArgfsTer10
XR_001750279.1:n.2378del
XR_001750282.1:n.3031del
XR_943416.3:n.2343del
NM_013382.6:c.2092del	NP_037514.2:p.Ala698ArgfsTer10
NM_013382.7:c.2092del MANE Select	NP_037514.2:p.Ala698ArgfsTer10