Canonical Allele Identifier: CA10603802

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77296228_77296235delinsC , CM000676.2:g.77296228_77296235delinsC	GRCh38
NC_000014.8:g.77762571_77762578delinsC , CM000676.1:g.77762571_77762578delinsC	GRCh37
NC_000014.7:g.76832324_76832331delinsC	NCBI36
NG_008897.1:g.29648_29655delinsG , LRG_844:g.29648_29655delinsG

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1045_1052delinsG MANE Select	NP_037514.2:p.Arg349AlafsTer?
ENST00000261534.9:c.1045_1052delinsG MANE Select	ENSP00000261534.4:p.Arg349AlafsTer?
NM_013382.5:c.1045_1052delinsG , LRG_844t1:c.1045_1052delinsG	NP_037514.2:p.Arg349AlafsTer?
NM_013382.6:c.1045_1052delinsG	NP_037514.2:p.Arg349AlafsTer?
ENST00000261534.8:c.1045_1052delinsG	ENSP00000261534.4:p.Arg349AlafsTer?
ENST00000452340.7:n.1068_1075delinsG
ENST00000554767.5:n.1831_1838delinsG
ENST00000556394.2:c.586_593delinsG	ENSP00000451967.2:p.Arg196AlafsTer?
ENST00000557289.1:c.284_291delinsG	ENSP00000451115.1:n.284_291delinsG
ENST00000557289.2:c.343_350delinsG
ENST00000557675.5:n.135_142delinsG
ENST00000682247.1:c.1045_1052delinsG	ENSP00000507213.1:p.Arg349AlafsTer?
ENST00000682382.1:c.617_624delinsG
ENST00000682395.1:n.774_781delinsG
ENST00000682459.1:n.709_716delinsG
ENST00000682467.1:c.1045_1052delinsG	ENSP00000508062.1:p.Arg349AlafsTer?
ENST00000682795.1:c.1045_1052delinsG	ENSP00000507574.1:p.Arg349AlafsTer?
ENST00000682895.1:n.761_768delinsG
ENST00000682955.1:n.333_340delinsG
ENST00000683188.1:c.571_578delinsG
ENST00000683285.1:c.39_46delinsG
ENST00000683300.1:c.148_155delinsG	ENSP00000507630.1:p.Arg50AlafsTer?
ENST00000683328.1:c.110-4855_110-4848delinsG	ENSP00000508096.1:n.110-4855_110-4848delinsG
ENST00000683380.1:n.709_716delinsG
ENST00000683721.1:n.69_76delinsG
ENST00000683828.1:c.754_761delinsG
ENST00000684259.1:n.896_903delinsG
ENST00000684528.1:c.39_46delinsG
ENST00000684549.1:n.596_603delinsG
ENST00000684554.1:c.282_289delinsG
XM_011536675.1:c.1045_1052delinsG	XP_011534977.1:p.Arg349AlafsTer?
XM_011536675.2:c.1045_1052delinsG	XP_011534977.1:p.Arg349AlafsTer?
XM_011536676.1:c.712_719delinsG	XP_011534978.1:p.Arg238AlafsTer?
XM_011536676.2:c.712_719delinsG	XP_011534978.1:p.Arg238AlafsTer?
XM_011536677.1:c.586_593delinsG	XP_011534979.1:p.Arg196AlafsTer?
XM_011536677.3:c.586_593delinsG	XP_011534979.1:p.Arg196AlafsTer?
XM_011536678.1:c.1045_1052delinsG	XP_011534980.1:p.Arg349AlafsTer?
XM_011536679.1:c.139_146delinsG	XP_011534981.1:p.Arg47AlafsTer?
XM_011536680.1:c.1045_1052delinsG	XP_011534982.1:p.Arg349AlafsTer?
XR_001750279.1:n.1245_1252delinsG
XR_001750282.1:n.1249_1256delinsG
XR_943416.1:n.1248_1255delinsG
XR_943416.3:n.1246_1253delinsG