Canonical Allele Identifier: CA2148330042

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286738_77286747delinsACTTACTATG , CM000676.2:g.77286738_77286747delinsACTTACTATG	GRCh38
NC_000014.8:g.77753081_77753090delinsACTTACTATG , CM000676.1:g.77753081_77753090delinsACTTACTATG	GRCh37
NC_000014.7:g.76822834_76822843delinsACTTACTATG	NCBI36
NG_008897.1:g.39136_39145delinsCATAGTAAGT , LRG_844:g.39136_39145delinsCATAGTAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.870_873+6delinsCATAGTAAGT
ENST00000682247.1:c.1329_1332+6delinsCATAGTAAGT
ENST00000682382.1:c.901_904+6delinsCATAGTAAGT
ENST00000682395.1:n.1507_1510+6delinsCATAGTAAGT
ENST00000682459.1:n.1032_1035+6delinsCATAGTAAGT
ENST00000682467.1:c.1329_1332+6delinsCATAGTAAGT
ENST00000682795.1:c.1329_1332+6delinsCATAGTAAGT
ENST00000682895.1:n.1045_1048+6delinsCATAGTAAGT
ENST00000682955.1:n.617_620+6delinsCATAGTAAGT
ENST00000683188.1:c.1304_1307+6delinsCATAGTAAGT
ENST00000683380.1:n.993_996+6delinsCATAGTAAGT
ENST00000683828.1:c.1038_1041+6delinsCATAGTAAGT
ENST00000684259.1:n.1180_1183+6delinsCATAGTAAGT
ENST00000684444.1:c.76_83+2delinsCATAGTAAGT
ENST00000684549.1:n.880_883+6delinsCATAGTAAGT
ENST00000261534.9:c.1329_1332+6delinsCATAGTAAGT
ENST00000261534.8:c.1329_1332+6delinsCATAGTAAGT
ENST00000452340.7:n.1352_1355+6delinsCATAGTAAGT
ENST00000553880.5:n.200_203+6delinsCATAGTAAGT
ENST00000554767.5:n.2115_2118+6delinsCATAGTAAGT
ENST00000554884.5:n.321_324+6delinsCATAGTAAGT
ENST00000556404.1:n.463_466+6delinsCATAGTAAGT
ENST00000557675.5:n.419_422+6delinsCATAGTAAGT
NM_013382.5:c.1329_1332+6delinsCATAGTAAGT , LRG_844t1:c.1329_1332+6delinsCATAGTAAGT
XM_011536675.1:c.1329_1332+6delinsCATAGTAAGT
XM_011536676.1:c.996_999+6delinsCATAGTAAGT
XM_011536677.1:c.870_873+6delinsCATAGTAAGT
XM_011536678.1:c.1329_1332+6delinsCATAGTAAGT
XM_011536679.1:c.423_426+6delinsCATAGTAAGT
XR_943416.1:n.1532_1535+6delinsCATAGTAAGT
XM_011536675.2:c.1329_1332+6delinsCATAGTAAGT
XM_011536676.2:c.996_999+6delinsCATAGTAAGT
XM_011536677.3:c.870_873+6delinsCATAGTAAGT
XR_001750279.1:n.1529_1532+6delinsCATAGTAAGT
XR_001750282.1:n.1982_1985+6delinsCATAGTAAGT
XR_943416.3:n.1530_1533+6delinsCATAGTAAGT
NM_013382.6:c.1329_1332+6delinsCATAGTAAGT
NM_013382.7:c.1329_1332+6delinsCATAGTAAGT