Canonical Allele Identifier: CA955200522

Gene: COG6

Linked Data

• dbSNP Id: rs1174117737
• gnomAD v3: 13-39776649-GAAA-G
• gnomAD v4: 13-39776649-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776653_39776655del , CM000675.2:g.39776653_39776655del	GRCh38
NC_000013.10:g.40350790_40350792del , CM000675.1:g.40350790_40350792del	GRCh37
NC_000013.9:g.39248790_39248792del	NCBI36
NG_028352.1:g.126027_126029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000416691.5:c.1827-11682_1827-11680del	ENSP00000403733.1:n.1827-11682_1827-11680del
NM_001145079.1:c.1827-11682_1827-11680del	NP_001138551.1:n.1827-11682_1827-11680del
NM_001145079.2:c.1827-11682_1827-11680del	NP_001138551.1:n.1827-11682_1827-11680del