Canonical Allele Identifier: CA2148327509

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278514_77278516delinsGGA , CM000676.2:g.77278514_77278516delinsGGA	GRCh38
NC_000014.8:g.77744857_77744859delinsGGA , CM000676.1:g.77744857_77744859delinsGGA	GRCh37
NC_000014.7:g.76814610_76814612delinsGGA	NCBI36
NG_008897.1:g.47367_47369delinsTCC , LRG_844:g.47367_47369delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-8_958-6delinsTCC
ENST00000556394.2:c.1574-8_1574-6delinsTCC	ENSP00000451967.2:n.1574-8_1574-6delinsTCC
ENST00000682247.1:c.2022-8_2022-6delinsTCC	ENSP00000507213.1:n.2022-8_2022-6delinsTCC
ENST00000682395.1:n.2497-8_2497-6delinsTCC
ENST00000682459.1:n.1736-8_1736-6delinsTCC
ENST00000682467.1:c.1892-8_1892-6delinsTCC	ENSP00000508062.1:n.1892-8_1892-6delinsTCC
ENST00000682795.1:c.2180-8_2180-6delinsTCC	ENSP00000507574.1:n.2180-8_2180-6delinsTCC
ENST00000682895.1:n.1749-8_1749-6delinsTCC
ENST00000682955.1:n.1607-8_1607-6delinsTCC
ENST00000683188.1:c.2294-8_2294-6delinsTCC
ENST00000683380.1:n.1697-8_1697-6delinsTCC
ENST00000683907.1:c.298-8_298-6delinsTCC	ENSP00000507754.1:n.298-8_298-6delinsTCC
ENST00000684259.1:n.3800-8_3800-6delinsTCC
ENST00000684538.1:n.1412-8_1412-6delinsTCC
ENST00000684549.1:n.1584-8_1584-6delinsTCC
ENST00000261534.9:c.2033-8_2033-6delinsTCC MANE Select	ENSP00000261534.4:n.2033-8_2033-6delinsTCC
ENST00000261534.8:c.2033-8_2033-6delinsTCC	ENSP00000261534.4:n.2033-8_2033-6delinsTCC
ENST00000452340.7:n.3009-8_3009-6delinsTCC
ENST00000554767.5:n.2819-8_2819-6delinsTCC
ENST00000555710.1:c.394-8_394-6delinsTCC	ENSP00000451730.1:n.394-8_394-6delinsTCC
ENST00000556394.1:c.88-8_88-6delinsTCC
ENST00000556446.1:n.334-8_334-6delinsTCC
ENST00000602717.5:c.248-8_248-6delinsTCC	ENSP00000487704.1:n.248-8_248-6delinsTCC
NM_013382.5:c.2033-8_2033-6delinsTCC , LRG_844t1:c.2033-8_2033-6delinsTCC	NP_037514.2:n.2033-8_2033-6delinsTCC
XM_011536675.1:c.2222-8_2222-6delinsTCC	XP_011534977.1:n.2222-8_2222-6delinsTCC
XM_011536676.1:c.1889-8_1889-6delinsTCC	XP_011534978.1:n.1889-8_1889-6delinsTCC
XM_011536677.1:c.1763-8_1763-6delinsTCC	XP_011534979.1:n.1763-8_1763-6delinsTCC
XM_011536679.1:c.1316-8_1316-6delinsTCC	XP_011534981.1:n.1316-8_1316-6delinsTCC
XR_943416.1:n.2286-8_2286-6delinsTCC
XM_011536675.2:c.2222-8_2222-6delinsTCC	XP_011534977.1:n.2222-8_2222-6delinsTCC
XM_011536676.2:c.1889-8_1889-6delinsTCC	XP_011534978.1:n.1889-8_1889-6delinsTCC
XM_011536677.3:c.1763-8_1763-6delinsTCC	XP_011534979.1:n.1763-8_1763-6delinsTCC
XR_001750279.1:n.2319-8_2319-6delinsTCC
XR_001750282.1:n.2972-8_2972-6delinsTCC
XR_943416.3:n.2284-8_2284-6delinsTCC
NM_013382.6:c.2033-8_2033-6delinsTCC	NP_037514.2:n.2033-8_2033-6delinsTCC
NM_013382.7:c.2033-8_2033-6delinsTCC MANE Select	NP_037514.2:n.2033-8_2033-6delinsTCC