Canonical Allele Identifier: CA4430568

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107203533_107203534del , CM000669.2:g.107203533_107203534del	GRCh38
NC_000007.13:g.106843978_106843979del , CM000669.1:g.106843978_106843979del	GRCh37
NC_000007.12:g.106631214_106631215del	NCBI36
NG_028095.1:g.365982_365983del
NG_028095.2:g.365982_365983del

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2473_2474del MANE Select	NP_006339.4:p.Met825ValfsTer8
ENST00000297135.9:c.2473_2474del MANE Select	ENSP00000297135.4:p.Met825ValfsTer8
NM_001379511.1:c.2311_2312del	NP_001366440.1:p.Met771ValfsTer8
NM_001379512.1:c.2299_2300del	NP_001366441.1:p.Met767ValfsTer8
NM_001379513.1:c.2266_2267del	NP_001366442.1:p.Met756ValfsTer8
NM_001379514.1:c.2158_2159del	NP_001366443.1:p.Met720ValfsTer8
NM_001379515.1:c.1903_1904del	NP_001366444.1:p.Met635ValfsTer8
NM_001379516.1:c.1759_1760del	NP_001366445.1:p.Met587ValfsTer8
NM_006348.3:c.2566_2567del	NP_006339.3:p.Met856ValfsTer8
NM_006348.4:c.2473_2474del	NP_006339.4:p.Met825ValfsTer8
NM_181733.2:c.2503_2504del	NP_859422.2:p.Met835ValfsTer8
NM_181733.3:c.2410_2411del	NP_859422.3:p.Met804ValfsTer8
NM_181733.4:c.2410_2411del	NP_859422.3:p.Met804ValfsTer8
ENST00000297135.7:c.2566_2567del	ENSP00000297135.3:p.Met856ValfsTer8
ENST00000347053.7:c.2503_2504del	ENSP00000334703.2:p.Met835ValfsTer8
ENST00000347053.8:c.2410_2411del	ENSP00000334703.3:p.Met804ValfsTer8