Canonical Allele Identifier: CA2802241680

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306465_77306466insCCAAACACACCCAACAC , CM000676.2:g.77306465_77306466insCCAAACACACCCAACAC	GRCh38
NC_000014.8:g.77772808_77772809insCCAAACACACCCAACAC , CM000676.1:g.77772808_77772809insCCAAACACACCCAACAC	GRCh37
NC_000014.7:g.76842561_76842562insCCAAACACACCCAACAC	NCBI36
NG_008897.1:g.19417_19418insGTGTTGGGTGTGTTTGG , LRG_844:g.19417_19418insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000556394.2:c.249-1666_249-1665insGTGTTGGGTGTGTTTGG	ENSP00000451967.2:n.249-1666_249-1665insGTGTTGGGTGTGTTTGG
ENST00000556880.6:n.267-25_267-24insGTGTTGGGTGTGTTTGG
ENST00000682247.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	ENSP00000507213.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
ENST00000682382.1:c.282-25_282-24insGTGTTGGGTGTGTTTGG
ENST00000682395.1:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000682459.1:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000682467.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	ENSP00000508062.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
ENST00000682795.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	ENSP00000507574.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
ENST00000682895.1:n.25_26insGTGTTGGGTGTGTTTGG
ENST00000682955.1:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000683188.1:c.129-25_129-24insGTGTTGGGTGTGTTTGG
ENST00000683380.1:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000683828.1:c.203-25_203-24insGTGTTGGGTGTGTTTGG
ENST00000684066.1:n.29-25_29-24insGTGTTGGGTGTGTTTGG
ENST00000684102.1:n.80-25_80-24insGTGTTGGGTGTGTTTGG
ENST00000684259.1:n.185-25_185-24insGTGTTGGGTGTGTTTGG
ENST00000684549.1:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000684600.1:c.148-25_148-24insGTGTTGGGTGTGTTTGG
ENST00000684746.1:n.31-25_31-24insGTGTTGGGTGTGTTTGG
ENST00000261534.9:c.334-25_334-24insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000261534.4:n.334-25_334-24insGTGTTGGGTGTGTTTGG
ENST00000261534.8:c.334-25_334-24insGTGTTGGGTGTGTTTGG	ENSP00000261534.4:n.334-25_334-24insGTGTTGGGTGTGTTTGG
ENST00000452340.7:n.357-25_357-24insGTGTTGGGTGTGTTTGG
ENST00000553863.5:n.38_39insGTGTTGGGTGTGTTTGG
ENST00000554948.1:c.61-25_61-24insGTGTTGGGTGTGTTTGG	ENSP00000452060.1:n.61-25_61-24insGTGTTGGGTGTGTTTGG
ENST00000555675.5:n.25_26insGTGTTGGGTGTGTTTGG
ENST00000555788.5:n.168-25_168-24insGTGTTGGGTGTGTTTGG
ENST00000556326.5:c.249-25_249-24insGTGTTGGGTGTGTTTGG	ENSP00000450630.1:n.249-25_249-24insGTGTTGGGTGTGTTTGG
ENST00000556880.5:n.267-25_267-24insGTGTTGGGTGTGTTTGG
ENST00000557525.1:n.424-25_424-24insGTGTTGGGTGTGTTTGG
NM_013382.5:c.334-25_334-24insGTGTTGGGTGTGTTTGG , LRG_844t1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	NP_037514.2:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XM_011536675.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534977.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XM_011536676.1:c.1-25_1-24insGTGTTGGGTGTGTTTGG	XP_011534978.1:n.1-25_1-24insGTGTTGGGTGTGTTTGG
XM_011536677.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534979.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XM_011536678.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534980.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XM_011536680.1:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534982.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XR_943416.1:n.537-25_537-24insGTGTTGGGTGTGTTTGG
XM_011536675.2:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534977.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XM_011536676.2:c.1-25_1-24insGTGTTGGGTGTGTTTGG	XP_011534978.1:n.1-25_1-24insGTGTTGGGTGTGTTTGG
XM_011536677.3:c.334-25_334-24insGTGTTGGGTGTGTTTGG	XP_011534979.1:n.334-25_334-24insGTGTTGGGTGTGTTTGG
XR_001750279.1:n.534-25_534-24insGTGTTGGGTGTGTTTGG
XR_001750282.1:n.538-25_538-24insGTGTTGGGTGTGTTTGG
XR_943416.3:n.535-25_535-24insGTGTTGGGTGTGTTTGG
NM_013382.6:c.334-25_334-24insGTGTTGGGTGTGTTTGG	NP_037514.2:n.334-25_334-24insGTGTTGGGTGTGTTTGG
NM_013382.7:c.334-25_334-24insGTGTTGGGTGTGTTTGG MANE Select	NP_037514.2:n.334-25_334-24insGTGTTGGGTGTGTTTGG