Canonical Allele Identifier: CA2602869180

Gene: COG5

Linked Data

• gnomAD v3: 7-107297826-GTAAT-G
• gnomAD v4: 7-107297826-GTAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107297829_107297832del , CM000669.2:g.107297829_107297832del	GRCh38
NC_000007.13:g.106938274_106938277del , CM000669.1:g.106938274_106938277del	GRCh37
NC_000007.12:g.106725510_106725513del	NCBI36
NG_028095.1:g.271685_271688del
NG_028095.2:g.271685_271688del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297135.9:c.1313+312_1313+315del MANE Select	ENSP00000297135.4:n.1313+312_1313+315del
ENST00000347053.8:c.1313+312_1313+315del	ENSP00000334703.3:n.1313+312_1313+315del
ENST00000393603.7:c.1313+312_1313+315del	ENSP00000377228.3:n.1313+312_1313+315del
ENST00000297135.7:c.1406+312_1406+315del	ENSP00000297135.3:n.1406+312_1406+315del
ENST00000347053.7:c.1406+312_1406+315del	ENSP00000334703.2:n.1406+312_1406+315del
ENST00000393603.6:c.1406+312_1406+315del	ENSP00000377228.2:n.1406+312_1406+315del
NM_001161520.1:c.1406+312_1406+315del	NP_001154992.1:n.1406+312_1406+315del
NM_006348.3:c.1406+312_1406+315del	NP_006339.3:n.1406+312_1406+315del
NM_181733.2:c.1406+312_1406+315del	NP_859422.2:n.1406+312_1406+315del
XM_011515738.1:c.1406+312_1406+315del	XP_011514040.1:n.1406+312_1406+315del
XM_024446634.1:c.1406+312_1406+315del	XP_024302402.1:n.1406+312_1406+315del
NM_001161520.2:c.1313+312_1313+315del	NP_001154992.2:n.1313+312_1313+315del
NM_006348.4:c.1313+312_1313+315del	NP_006339.4:n.1313+312_1313+315del
NM_181733.3:c.1313+312_1313+315del	NP_859422.3:n.1313+312_1313+315del
NM_001379511.1:c.1313+312_1313+315del	NP_001366440.1:n.1313+312_1313+315del
NM_001379512.1:c.1313+312_1313+315del	NP_001366441.1:n.1313+312_1313+315del
NM_001379513.1:c.1313+312_1313+315del	NP_001366442.1:n.1313+312_1313+315del
NM_001379514.1:c.1313+312_1313+315del	NP_001366443.1:n.1313+312_1313+315del
NM_001379515.1:c.743+312_743+315del	NP_001366444.1:n.743+312_743+315del
NM_001379516.1:c.599+312_599+315del	NP_001366445.1:n.599+312_599+315del
NM_006348.5:c.1313+312_1313+315del MANE Select	NP_006339.4:n.1313+312_1313+315del
NM_181733.4:c.1313+312_1313+315del	NP_859422.3:n.1313+312_1313+315del