Canonical Allele Identifier: CA2634065625

Gene: COG4

Linked Data

• gnomAD v4: 16-70481491-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481494_70481496del , CM000678.2:g.70481494_70481496del	GRCh38
NC_000016.9:g.70515397_70515399del , CM000678.1:g.70515397_70515399del	GRCh37
NC_000016.8:g.69072898_69072900del	NCBI36
NG_027529.1:g.47061_47063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2183-7_*2183-5del	ENSP00000461912.2:n.*2183-7_*2183-5del
ENST00000703106.1:c.2152-7_2152-5del	ENSP00000515173.1:n.2152-7_2152-5del
ENST00000703107.1:c.*2036-7_*2036-5del	ENSP00000515174.1:n.*2036-7_*2036-5del
ENST00000703108.1:c.*555-7_*555-5del	ENSP00000515175.1:n.*555-7_*555-5del
ENST00000703109.1:c.2140-7_2140-5del	ENSP00000515176.1:n.2140-7_2140-5del
ENST00000703110.1:c.*1609-7_*1609-5del	ENSP00000515177.1:n.*1609-7_*1609-5del
ENST00000703111.1:n.2383_2385del
ENST00000703112.1:n.3044_3046del
ENST00000703113.1:c.*1520-7_*1520-5del	ENSP00000515178.1:n.*1520-7_*1520-5del
ENST00000703114.1:c.*756-7_*756-5del	ENSP00000515179.1:n.*756-7_*756-5del
ENST00000703115.1:c.1220-7_1220-5del	ENSP00000515180.1:n.1220-7_1220-5del
ENST00000323786.10:c.2107-7_2107-5del MANE Select	ENSP00000315775.5:n.2107-7_2107-5del
ENST00000564415.6:c.*1887-7_*1887-5del	ENSP00000456653.2:n.*1887-7_*1887-5del
ENST00000674443.1:c.2032-7_2032-5del	ENSP00000501405.1:n.2032-7_2032-5del
ENST00000323786.9:c.2107-7_2107-5del	ENSP00000315775.5:n.2107-7_2107-5del
ENST00000393612.8:c.2044-7_2044-5del	ENSP00000377236.5:n.2044-7_2044-5del
ENST00000482252.5:c.2254-7_2254-5del	ENSP00000432802.1:n.2254-7_2254-5del
ENST00000526700.5:n.1283-7_1283-5del
ENST00000530314.5:n.2786-7_2786-5del
ENST00000564415.5:c.*1887-7_*1887-5del	ENSP00000456653.1:n.*1887-7_*1887-5del
ENST00000565715.1:c.169-7_169-5del	ENSP00000455693.1:n.169-7_169-5del
NM_001195139.1:c.2044-7_2044-5del	NP_001182068.1:n.2044-7_2044-5del
NM_015386.2:c.2107-7_2107-5del	NP_056201.2:n.2107-7_2107-5del
XM_011522981.1:c.1681-7_1681-5del	XP_011521283.1:n.1681-7_1681-5del
XM_011522981.3:c.1681-7_1681-5del	XP_011521283.1:n.1681-7_1681-5del
XM_024450224.1:c.1126-7_1126-5del	XP_024305992.1:n.1126-7_1126-5del
XR_001751889.1:n.1990-7_1990-5del
XR_933266.2:n.2053-7_2053-5del
NM_015386.3:c.2107-7_2107-5del MANE Select	NP_056201.2:n.2107-7_2107-5del
NM_001195139.2:c.2032-7_2032-5del	NP_001182068.2:n.2032-7_2032-5del
NM_001365426.1:c.1681-7_1681-5del	NP_001352355.1:n.1681-7_1681-5del
NR_158212.1:n.2066-7_2066-5del