Canonical Allele Identifier: CA2148328960

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306454_77306458delinsGAACA , CM000676.2:g.77306454_77306458delinsGAACA	GRCh38
NC_000014.8:g.77772797_77772801delinsGAACA , CM000676.1:g.77772797_77772801delinsGAACA	GRCh37
NC_000014.7:g.76842550_76842554delinsGAACA	NCBI36
NG_008897.1:g.19425_19429delinsTGTTC , LRG_844:g.19425_19429delinsTGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.46_50delinsTGTTC
ENST00000556394.2:c.249-1658_249-1654delinsTGTTC	ENSP00000451967.2:n.249-1658_249-1654delinsTGTTC
ENST00000556880.6:n.267-17_267-13delinsTGTTC
ENST00000682247.1:c.334-17_334-13delinsTGTTC	ENSP00000507213.1:n.334-17_334-13delinsTGTTC
ENST00000682382.1:c.282-17_282-13delinsTGTTC
ENST00000682395.1:n.46_50delinsTGTTC
ENST00000682459.1:n.46_50delinsTGTTC
ENST00000682467.1:c.334-17_334-13delinsTGTTC	ENSP00000508062.1:n.334-17_334-13delinsTGTTC
ENST00000682795.1:c.334-17_334-13delinsTGTTC	ENSP00000507574.1:n.334-17_334-13delinsTGTTC
ENST00000682895.1:n.33_37delinsTGTTC
ENST00000682955.1:n.46_50delinsTGTTC
ENST00000683188.1:c.129-17_129-13delinsTGTTC
ENST00000683380.1:n.46_50delinsTGTTC
ENST00000683828.1:c.203-17_203-13delinsTGTTC
ENST00000684066.1:n.29-17_29-13delinsTGTTC
ENST00000684102.1:n.80-17_80-13delinsTGTTC
ENST00000684259.1:n.185-17_185-13delinsTGTTC
ENST00000684549.1:n.46_50delinsTGTTC
ENST00000684600.1:c.148-17_148-13delinsTGTTC
ENST00000684746.1:n.31-17_31-13delinsTGTTC
ENST00000261534.9:c.334-17_334-13delinsTGTTC MANE Select	ENSP00000261534.4:n.334-17_334-13delinsTGTTC
ENST00000261534.8:c.334-17_334-13delinsTGTTC	ENSP00000261534.4:n.334-17_334-13delinsTGTTC
ENST00000452340.7:n.357-17_357-13delinsTGTTC
ENST00000553863.5:n.46_50delinsTGTTC
ENST00000554948.1:c.61-17_61-13delinsTGTTC	ENSP00000452060.1:n.61-17_61-13delinsTGTTC
ENST00000555675.5:n.33_37delinsTGTTC
ENST00000555788.5:n.168-17_168-13delinsTGTTC
ENST00000556326.5:c.249-17_249-13delinsTGTTC	ENSP00000450630.1:n.249-17_249-13delinsTGTTC
ENST00000556880.5:n.267-17_267-13delinsTGTTC
ENST00000557525.1:n.424-17_424-13delinsTGTTC
NM_013382.5:c.334-17_334-13delinsTGTTC , LRG_844t1:c.334-17_334-13delinsTGTTC	NP_037514.2:n.334-17_334-13delinsTGTTC
XM_011536675.1:c.334-17_334-13delinsTGTTC	XP_011534977.1:n.334-17_334-13delinsTGTTC
XM_011536676.1:c.1-17_1-13delinsTGTTC	XP_011534978.1:n.1-17_1-13delinsTGTTC
XM_011536677.1:c.334-17_334-13delinsTGTTC	XP_011534979.1:n.334-17_334-13delinsTGTTC
XM_011536678.1:c.334-17_334-13delinsTGTTC	XP_011534980.1:n.334-17_334-13delinsTGTTC
XM_011536680.1:c.334-17_334-13delinsTGTTC	XP_011534982.1:n.334-17_334-13delinsTGTTC
XR_943416.1:n.537-17_537-13delinsTGTTC
XM_011536675.2:c.334-17_334-13delinsTGTTC	XP_011534977.1:n.334-17_334-13delinsTGTTC
XM_011536676.2:c.1-17_1-13delinsTGTTC	XP_011534978.1:n.1-17_1-13delinsTGTTC
XM_011536677.3:c.334-17_334-13delinsTGTTC	XP_011534979.1:n.334-17_334-13delinsTGTTC
XR_001750279.1:n.534-17_534-13delinsTGTTC
XR_001750282.1:n.538-17_538-13delinsTGTTC
XR_943416.3:n.535-17_535-13delinsTGTTC
NM_013382.6:c.334-17_334-13delinsTGTTC	NP_037514.2:n.334-17_334-13delinsTGTTC
NM_013382.7:c.334-17_334-13delinsTGTTC MANE Select	NP_037514.2:n.334-17_334-13delinsTGTTC