Canonical Allele Identifier: CA1732558997

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107298112_107298116delinsCAACT , CM000669.2:g.107298112_107298116delinsCAACT	GRCh38
NC_000007.13:g.106938557_106938561delinsCAACT , CM000669.1:g.106938557_106938561delinsCAACT	GRCh37
NC_000007.12:g.106725793_106725797delinsCAACT	NCBI36
NG_028095.1:g.271399_271403delinsAGTTG
NG_028095.2:g.271399_271403delinsAGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.1313+26_1313+30delinsAGTTG MANE Select	ENSP00000297135.4:n.1313+26_1313+30delinsAGTTG
ENST00000347053.8:c.1313+26_1313+30delinsAGTTG	ENSP00000334703.3:n.1313+26_1313+30delinsAGTTG
ENST00000393603.7:c.1313+26_1313+30delinsAGTTG	ENSP00000377228.3:n.1313+26_1313+30delinsAGTTG
ENST00000297135.7:c.1406+26_1406+30delinsAGTTG	ENSP00000297135.3:n.1406+26_1406+30delinsAGTTG
ENST00000347053.7:c.1406+26_1406+30delinsAGTTG	ENSP00000334703.2:n.1406+26_1406+30delinsAGTTG
ENST00000393603.6:c.1406+26_1406+30delinsAGTTG	ENSP00000377228.2:n.1406+26_1406+30delinsAGTTG
NM_001161520.1:c.1406+26_1406+30delinsAGTTG	NP_001154992.1:n.1406+26_1406+30delinsAGTTG
NM_006348.3:c.1406+26_1406+30delinsAGTTG	NP_006339.3:n.1406+26_1406+30delinsAGTTG
NM_181733.2:c.1406+26_1406+30delinsAGTTG	NP_859422.2:n.1406+26_1406+30delinsAGTTG
XM_011515738.1:c.1406+26_1406+30delinsAGTTG	XP_011514040.1:n.1406+26_1406+30delinsAGTTG
XM_024446634.1:c.1406+26_1406+30delinsAGTTG	XP_024302402.1:n.1406+26_1406+30delinsAGTTG
NM_001161520.2:c.1313+26_1313+30delinsAGTTG	NP_001154992.2:n.1313+26_1313+30delinsAGTTG
NM_006348.4:c.1313+26_1313+30delinsAGTTG	NP_006339.4:n.1313+26_1313+30delinsAGTTG
NM_181733.3:c.1313+26_1313+30delinsAGTTG	NP_859422.3:n.1313+26_1313+30delinsAGTTG
NM_001379511.1:c.1313+26_1313+30delinsAGTTG	NP_001366440.1:n.1313+26_1313+30delinsAGTTG
NM_001379512.1:c.1313+26_1313+30delinsAGTTG	NP_001366441.1:n.1313+26_1313+30delinsAGTTG
NM_001379513.1:c.1313+26_1313+30delinsAGTTG	NP_001366442.1:n.1313+26_1313+30delinsAGTTG
NM_001379514.1:c.1313+26_1313+30delinsAGTTG	NP_001366443.1:n.1313+26_1313+30delinsAGTTG
NM_001379515.1:c.743+26_743+30delinsAGTTG	NP_001366444.1:n.743+26_743+30delinsAGTTG
NM_001379516.1:c.599+26_599+30delinsAGTTG	NP_001366445.1:n.599+26_599+30delinsAGTTG
NM_006348.5:c.1313+26_1313+30delinsAGTTG MANE Select	NP_006339.4:n.1313+26_1313+30delinsAGTTG
NM_181733.4:c.1313+26_1313+30delinsAGTTG	NP_859422.3:n.1313+26_1313+30delinsAGTTG