Canonical Allele Identifier: CA8144025

Gene: COG4

Linked Data

• dbSNP Id: rs759228679
• ExAC: 16:70515372 CAA / C
• gnomAD v2: 16-70515372-CAA-C
• gnomAD v4: 16-70481469-CAA-C
• MyVariant Identifiers: chr16:g.70515373_70515374del (hg19) ; chr16:g.70481470_70481471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481471_70481472del , CM000678.2:g.70481471_70481472del	GRCh38
NC_000016.9:g.70515374_70515375del , CM000678.1:g.70515374_70515375del	GRCh37
NC_000016.8:g.69072875_69072876del	NCBI36
NG_027529.1:g.47084_47085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2199_*2200del	ENSP00000461912.2:n.*2199_*2200del
ENST00000703106.1:c.2168_2169del	ENSP00000515173.1:n.2168_2169del
ENST00000703107.1:c.*2052_*2053del	ENSP00000515174.1:n.*2052_*2053del
ENST00000703108.1:c.*571_*572del	ENSP00000515175.1:n.*571_*572del
ENST00000703109.1:c.2156_2157del	ENSP00000515176.1:p.Phe719Ter
ENST00000703110.1:c.*1625_*1626del	ENSP00000515177.1:n.*1625_*1626del
ENST00000703111.1:n.2406_2407del
ENST00000703112.1:n.3067_3068del
ENST00000703113.1:c.*1536_*1537del	ENSP00000515178.1:n.*1536_*1537del
ENST00000703114.1:c.*772_*773del	ENSP00000515179.1:n.*772_*773del
ENST00000703115.1:c.1236_1237del	ENSP00000515180.1:n.1236_1237del
ENST00000323786.10:c.2123_2124del MANE Select	ENSP00000315775.5:p.Phe708Ter
ENST00000564415.6:c.*1903_*1904del	ENSP00000456653.2:n.*1903_*1904del
ENST00000674443.1:c.2048_2049del	ENSP00000501405.1:p.Phe683Ter
ENST00000323786.9:c.2123_2124del	ENSP00000315775.5:p.Phe708Ter
ENST00000393612.8:c.2060_2061del	ENSP00000377236.5:p.Phe687Ter
ENST00000482252.5:c.2270_2271del	ENSP00000432802.1:n.2270_2271del
ENST00000526700.5:n.1299_1300del
ENST00000530314.5:n.2802_2803del
ENST00000564415.5:c.*1903_*1904del	ENSP00000456653.1:n.*1903_*1904del
ENST00000565715.1:c.185_186del	ENSP00000455693.1:p.Phe62Ter
NM_001195139.1:c.2060_2061del	NP_001182068.1:p.Phe687Ter
NM_015386.2:c.2123_2124del	NP_056201.2:p.Phe708Ter
XM_011522981.1:c.1697_1698del	XP_011521283.1:p.Phe566Ter
XM_011522981.3:c.1697_1698del	XP_011521283.1:p.Phe566Ter
XM_024450224.1:c.1142_1143del	XP_024305992.1:p.Phe381Ter
XR_001751889.1:n.2006_2007del
XR_933266.2:n.2069_2070del
NM_015386.3:c.2123_2124del MANE Select	NP_056201.2:p.Phe708Ter
NM_001195139.2:c.2048_2049del	NP_001182068.2:p.Phe683Ter
NM_001365426.1:c.1697_1698del	NP_001352355.1:p.Phe566Ter
NR_158212.1:n.2082_2083del